CNV Technical Standards Web Series

A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).

Examples


CNV A - Pre-/Post-Series Evaluation Project

CNV A - Pre-/Post-Series Evaluation Project

arr[GRCh37]12p13.1p12.3(12864101_14983330)x1

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV B - Pre-/Post-Series Evaluation Project

CNV B - Pre-/Post-Series Evaluation Project

arr[GRCh37]11p11.2(45904399_46480747)x1 (dn)

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV C - Pre-/Post-Series Evaluation Project

CNV C - Pre-/Post-Series Evaluation Project

arr[GRCh37] 18q21.2(53049652_53134356)x 1

This case is part of the pre-/post-web series evaluation project, and is an example involving an intragenic variant.

CNV D - Pre-/Post-Series Evaluation Project

CNV D - Pre-/Post-Series Evaluation Project

arr[GRCh37] 22q13.1(40654201_40659533)x 1 mat

This case is part of the pre-/post-web series evaluation project, and is an example involving an intragenic variant.

CNV E - Pre-/Post-Series Evaluation Project

CNV E - Pre-/Post-Series Evaluation Project

arr[GRCh37] 15q13.2(30507853_30807921)x 1 pat

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving population data.

CNV F - Pre-/Post-Series Evaluation Project

CNV F - Pre-/Post-Series Evaluation Project

arr[GRCh37] 1p36.33(1379519_1435227)x 1 

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving population data.

CNV G - Pre-/Post-Series Evaluation Project

CNV G - Pre-/Post-Series Evaluation Project

arr[GRCh37] 13q12.11(20812000_21012000)x 1 mat

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving case-control data.

CNV H - Pre-/Post-Series Evaluation Project

CNV H - Pre-/Post-Series Evaluation Project

arr[GRCh37] 17p13.3(553250_1353250)x 1 dn

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving case-control data.

CNV I - Pre-/Post-Series Evaluation Project

CNV I - Pre-/Post-Series Evaluation Project

arr[GRCh37] 22q12.2q12.3(31645547_320807482)x 1 pat

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving case-level data.

CNV J - Pre-/Post-Series Evaluation Project

CNV J - Pre-/Post-Series Evaluation Project

arr[GRCh37] 3q28(190380498_191783134)x 1

This case is part of the pre-/post-web series evaluation project, and is a deletion example involving case-level data.

CNV K - Pre-/Post-Series Evaluation Project

CNV K - Pre-/Post-Series Evaluation Project

arr[GRCh37] 17p12(13029888_14707559)x3

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV L - Pre-/Post-Series Evaluation Project

CNV L - Pre-/Post-Series Evaluation Project

arr[GRCh37] Xq22.2(102534742_103114881)x3

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV M - Pre-/Post-Series Evaluation Project

CNV M - Pre-/Post-Series Evaluation Project

arr[GRCh37] 16q22.1(68797032_68846703)x 3

This case is part of the pre-/post-web series evaluation project, and is an example involving an intragenic variant.

CNV N - Pre-/Post-Series Evaluation Project

CNV N - Pre-/Post-Series Evaluation Project

arr[GRCh37] 10q22.2(76738122_76743018)x 3

This case is part of the pre-/post-web series evaluation project, and is an example involving an intragenic variant.

CNV O - Pre-/Post-Series Evaluation Project

CNV O - Pre-/Post-Series Evaluation Project

arr[GRCh37] 4p16.1(8952198_9486394)x 3 dn

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving population data.

CNV P - Pre-/Post-Series Evaluation Project

CNV P - Pre-/Post-Series Evaluation Project

arr[GRCh37] 17q21.2(39529437_39545915)x 3 mat

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving population data.

CNV Q - Pre-/Post-Series Evaluation Project

CNV Q - Pre-/Post-Series Evaluation Project

arr[GRCh37] 11p11.2(43983424_46063424)x 3 dn

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving case-control data.

CNV R - Pre-/Post-Series Evaluation Project

CNV R - Pre-/Post-Series Evaluation Project

arr[GRCh37] 7q11.23(74962064_76662064)x 3 mat

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving case-control data.

CNV S - Pre-/Post-Series Evaluation Project

CNV S - Pre-/Post-Series Evaluation Project

arr[GRCh37] 3q26.32(175816894_177834521)x 3 mat

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving case-level data.

CNV T - Pre-/Post-Series Evaluation Project

CNV T - Pre-/Post-Series Evaluation Project

arr[GRCh37] 1q22(155887333_156224120)x 3 

This case is part of the pre-/post-web series evaluation project, and is a duplication example involving case-level data.

Case U - Presented on Overview Webinar (Jan 16, 2020)

Case U - Presented on Overview Webinar (Jan 16, 2020)

arr[GRCh37] 9q31.2(108597937_111269478)x1

This case involves case-level data, and illustrates how to incorporate ClinGen Dosage Sensitivity scores other than 3 (sufficient evidence for dosage sensitivity) or 40 (dosage sensitivity unlikely).

Case V - Presented on Dosage Webinar (Jan 23, 2020)

Case V - Presented on Dosage Webinar (Jan 23, 2020)

arr[GRCh37] Xp22.11(23223505_23660309)x1 mat

This case involves overlap with a known haploinsufficient gene on the X chromosome in a female.

Case W - Presented on Case Data Webinar (January 30, 2020)

Case W - Presented on Case Data Webinar (January 30, 2020)

arr[GRCh37] 5q23.2(125989631_126295396)x3

This case illustrates how to score case-level data, including segregation data, and points to consider before overriding category maximums.

Case X - Presented on Case-Control Webinar (February 13, 2020)

Case X - Presented on Case-Control Webinar (February 13, 2020)

arr[GRCh37] 2p21(45408934_45976420)x3

This case illustrates how to assess case-control data.

Case Y - Presented on gnomAD SV Webinar (February 20, 2020)

Case Y - Presented on gnomAD SV Webinar (February 20, 2020)

arr[GRCh37] 4q13.2(69373811-69491113)x1 pat

This case illustrates how to use population data.

Case Z - Presented on the DGV Webinar (February 27, 2020)

Case Z - Presented on the DGV Webinar (February 27, 2020)

arr[GRCH37] 19p13.11(18291753_18311626)x3

This case illustrates how to use population data, as well as points to consider when deciding if a 1% population allele frequency is too high for the particular phenotype under investigation.