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Items: 1 to 20 of 83

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143107copy number variation1nstd232human GRCh37.p13 chr14: 70,237,820-70,237,907 , GRCh38.p12 chr14: 69,771,103-69,771,190 SRSF5
    nsv7094510copy number variation1nstd102humanPathogenic GRCh37 chr14: 68,699,594-70,654,407 , GRCh38.p12 chr14: 68,232,877-70,187,690 RN7SL108P, SNORD169, 38 more genes
    nsv7068193inversion1nstd229human GRCh38 chr14: 65,793,880-70,322,609 , GRCh37.p13 chr14: 66,260,598-70,789,326 BANF1P1, GALNT16-AS1, 78 more genes
    nsv7060201inversion1nstd229human GRCh38 chr14: 69,771,610-69,774,855 , GRCh37.p13 chr14: 70,238,327-70,241,572 SRSF5, SLC10A1
    nsv6591861inversion1nstd223human GRCh38 chr14: 65,793,878-70,322,614 , GRCh37.p13 chr14: 66,260,596-70,789,331 SLC8A3, GALNT16-AS1, 78 more genes
    nsv6589854inversion1nstd223human GRCh38 chr14: 69,771,609-69,774,854 , GRCh37.p13 chr14: 70,238,326-70,241,571 SLC10A1, SRSF5
    nsv6485840copy number variation1nstd223human GRCh38 chr14: 69,462,501-70,145,400 , GRCh37.p13 chr14: 69,929,218-70,612,117 SRSF5, SLC8A3, 11 more genes
    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
    nsv6133135copy number variation1nstd213human GRCh37 chr14: 68,890,000-70,620,001 , GRCh38.p12 chr14: 68,423,283-70,153,284 SLC8A3, ACTN1-DT, 33 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
    nsv5721139mobile element insertion1nstd211human GRCh38 chr14: 69,765,134-69,765,134 , GRCh37.p13 chr14: 70,231,851-70,231,851 LOC100289511, SRSF5
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4674992copy number variation1nstd102humanLikely benign GRCh37 chr14: 70,102,024-70,330,099 , GRCh38.p12 chr14: 69,635,307-69,863,382 SLC10A1, LOC100506358, 3 more genes
    nsv4634282copy number variation1nstd183human GRCh37 chr14: 70,233,742-70,238,557 , GRCh38.p12 chr14: 69,767,025-69,771,840 SRSF5, LOC100289511
    nsv4323072inversion1nstd166human GRCh37.p13 chr14: 66,260,597-70,789,330 , GRCh38.p12 chr14: 65,793,879-70,322,613 , ACTN1, 81 more genes
    nsv4231359copy number variation1nstd166human GRCh37.p13 chr14: 70,231,000-70,237,000 , GRCh38.p12 chr14: 69,764,283-69,770,283 SRSF5, LOC100289511
    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
    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
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