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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5500923copy number variation1nstd206human GRCh38 chr14: 59,464,080-59,464,590 , GRCh37.p13 chr14: 59,930,798-59,931,308 GPR135
    nsv5498260copy number variation1nstd206human GRCh38 chr14: 59,446,431-59,451,697 , GRCh37.p13 chr14: 59,913,149-59,918,415 GPR135
    nsv5496866copy number variation1nstd206human GRCh38 chr14: 59,457,406-59,460,844 , GRCh37.p13 chr14: 59,924,124-59,927,562 GPR135
    nsv5151981mobile element insertion1nstd203human GRCh38 chr14: 59,451,932-59,451,945 , GRCh37.p13 chr14: 59,918,650-59,918,663 GPR135
    nsv5143630mobile element insertion1nstd203human GRCh38 chr14: 59,451,936-59,451,945 , GRCh37.p13 chr14: 59,918,654-59,918,663 GPR135
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4999542copy number variation1nstd200human GRCh38 chr14: 59,457,406-59,460,844 , GRCh37.p13 chr14: 59,924,124-59,927,562 GPR135
    nsv4999541copy number variation1nstd200human GRCh38 chr14: 59,451,268-59,454,942 , GRCh37.p13 chr14: 59,917,986-59,921,660 GPR135
    nsv4999540copy number variation1nstd200human GRCh38 chr14: 59,446,454-59,451,675 , GRCh37.p13 chr14: 59,913,172-59,918,393 GPR135
    nsv4833131copy number variation1nstd200human GRCh37 chr14: 59,924,124-59,927,562 , GRCh38.p12 chr14: 59,457,406-59,460,844 GPR135
    nsv4552660insertion1nstd166human GRCh37.p13 chr14: 59,918,650-59,918,650 , GRCh38.p12 chr14: 59,451,932-59,451,932 GPR135
    nsv4223400copy number variation1nstd166human GRCh37.p13 chr14: 59,924,124-59,927,562 , GRCh38.p12 chr14: 59,457,406-59,460,844 GPR135
    nsv3924033copy number variation1nstd102humanPathogenic GRCh37 chr14: 58,120,131-64,560,246 , GRCh38 chr14: 57,653,413-64,093,528 , NCBI36 chr14: 57,189,884-63,629,999 DACT1, UBA52P3, 105 more genes
    nsv3922652copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,507,754-67,674,948 , NCBI36 chr14: 56,577,507-66,744,701 , GRCh38 chr14: 57,041,036-67,208,231 PARP1P2, SNAPC1, 160 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
    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
    nsv3915521copy number variation1nstd102humanPathogenic NCBI36 chr14: 57,682,493-60,810,090 , GRCh37 chr14: 58,612,740-61,740,337 , GRCh38 chr14: 58,146,022-61,273,619 DACT1, JKAMP, 61 more genes
    nsv3910126copy number variation1nstd102humanPathogenic NCBI36 chr14: 58,143,026-61,052,791 , GRCh37.p13 chr14: 59,073,273-61,983,038 , GRCh38.p12 chr14: 58,606,555-61,516,320 AKR1B1P5, SIX6, 45 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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