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Items: 1 to 20 of 99

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7077556inversion1nstd229human GRCh38 chr14: 73,471,057-73,821,037 , GRCh37.p13 chr14: 73,937,762-74,287,740 PNMA1, MIDEAS-AS1, 15 more genes
    nsv6962771copy number variation1nstd229human GRCh38 chr14: 73,707,193-73,713,123 , GRCh37.p13 chr14: 74,173,896-74,179,826 PNMA1, MIDEAS
    nsv6488254copy number variation1nstd223human GRCh38 chr14: 73,713,601-73,714,800 , GRCh37.p13 chr14: 74,180,304-74,181,503 PNMA1, MIDEAS
    nsv6476063copy number variation1nstd223human GRCh38 chr14: 64,354,345-74,200,229 , GRCh37.p13 chr14: 64,821,063-74,666,932 RNU6-240P, COX7A2P1, 196 more genes
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 PAPOLA-DT, LOC105378180, 1338 more genes
    nsv6132936copy number variation1nstd213human GRCh37 chr14: 73,480,000-74,470,001 , GRCh38.p12 chr14: 73,013,292-74,003,298 PSEN1, ACOT2, 32 more genes
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4620316copy number variation1nstd183human GRCh37 chr14: 74,178,604-74,178,868 , GRCh38.p12 chr14: 73,711,901-73,712,165 PNMA1
    nsv4451120copy number variation1nstd102humanUncertain significance GRCh38 chr14: 73,645,020-74,260,939 , GRCh37 chr14: 74,111,723-74,727,642 ENTPD5, COQ6, 20 more genes
    nsv4349747copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204 ACYP1, ENTPD5, 72 more genes
    nsv4219577copy number variation1nstd166human GRCh37.p13 chr14: 74,173,896-74,179,822 , GRCh38.p12 chr14: 73,707,193-73,713,119 PNMA1
    nsv4217502copy number variation1nstd166human GRCh37.p13 chr14: 74,178,785-74,178,835 , GRCh38.p12 chr14: 73,712,082-73,712,132 PNMA1
    nsv4217115copy number variation1nstd166human GRCh37.p13 chr14: 73,984,520-74,526,186 , GRCh38.p12 chr14: 73,517,816-74,059,483 PNMA1, RPL41P4, 22 more genes
    nsv3923727copy number variation1nstd102humanPathogenic GRCh37 chr14: 70,028,816-82,441,728 , GRCh38 chr14: 69,562,099-81,975,384 , NCBI36 chr14: 69,098,569-81,511,481 CEP128, COX6CP11, 240 more genes
    nsv3922094copy number variation1nstd102humanPathogenic GRCh38 chr14: 73,655,772-106,879,298 , GRCh37 chr14: 74,122,475-107,287,505 , NCBI36 chr14: 73,192,228-106,358,550 LOC105370614, LOC105370617, 849 more genes
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
    nsv3919051copy number variation1nstd102humanLikely pathogenic NCBI36 chr14: 72,879,674-78,371,155 , GRCh37 chr14: 73,809,921-79,301,402 , GRCh38 chr14: 73,343,213-78,835,059 ACYP1, ENTPD5, 137 more genes
    nsv3917422copy number variation1nstd102humanPathogenic GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478 MIR656, TRAJ59, 1918 more genes
    nsv3907460copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456 BANF1P1, IGHV1-68, 1996 more genes
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