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Items: 19

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    Number of Variants: 19

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094344copy number variation1nstd102humanPathogenic GRCh37 chr14: 74,153,942-74,156,238 , GRCh38.p12 chr14: 73,687,239-73,689,535 DNAL1
    nsv4451570copy number variation1nstd102humanPathogenic GRCh37 chr14: 74,138,225-74,138,320 , GRCh38 chr14: 73,671,522-73,671,617 DNAL1
    nsv3884232copy number variation1nstd102humanUncertain significance GRCh37 chr14: 74,138,245-74,138,300 , GRCh38 chr14: 73,671,542-73,671,597 DNAL1
    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 DNAL1, CEP128, 240 more genes
    nsv3902883copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,000,422-107,289,053 , GRCh38.p12 chr14: 18,223,945-106,880,863 DNAL1, LOC440181, 1998 more genes
    nsv3907460copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456 DNAL1, BANF1P1, 1996 more genes
    nsv3899639copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,327,823-107,287,663 , GRCh38.p12 chr14: 18,551,346-106,879,456 DNAL1, LOC100289511, 1996 more genes
    nsv3903256copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,794,561-107,234,280 , GRCh38.p12 chr14: 19,652,445-106,826,050 DNAL1, DHRS7, 1946 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 DNAL1, SRMP2, 1929 more genes
    nsv3904265copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38.p12 chr14: 20,043,514-106,877,229 DNAL1, CRIP1, 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 DNAL1, MIR656, 1918 more genes
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 DNAL1, PAPOLA-DT, 1338 more genes
    nsv3898512copy number variation1nstd102humanPathogenic GRCh37 chr14: 73,750,741-107,285,437 , GRCh38.p12 chr14: 73,284,033-106,877,229 DNAL1, MEG3, 860 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 DNAL1, LOC105370614, 849 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 DNAL1, ACYP1, 137 more genes
    nsv1398265copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 73,152,115-77,698,582 , GRCh38.p12 chr14: 72,685,407-77,232,239 DNAL1, ACYP1, 125 more genes
    nsv4349747copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204 DNAL1, ACYP1, 72 more genes
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 DNAL1, ACTN1, 400 more genes
    nsv4451120copy number variation1nstd102humanUncertain significance GRCh38 chr14: 73,645,020-74,260,939 , GRCh37 chr14: 74,111,723-74,727,642 DNAL1, ENTPD5, 20 more genes
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