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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099204copy number variation1nstd231human GRCh38.p12 chr1: 51,433,462-53,162,521 , GRCh37 chr1: 51,899,134-53,628,193 EPS15, GPX7, 53 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651651copy number variation1nstd229human GRCh38 chr1: 52,594,301-52,825,900 , GRCh37.p13 chr1: 53,059,973-53,291,572 RNU6-969P, SHISAL2A, 7 more genes
    nsv6651564copy number variation1nstd229human GRCh38 chr1: 52,687,376-52,709,969 , GRCh37.p13 chr1: 53,153,048-53,175,641 COA7, NDUFS5P3
    nsv6651433copy number variation1nstd229human GRCh38 chr1: 52,684,036-52,684,077 , GRCh37.p13 chr1: 53,149,708-53,149,749 COA7
    nsv6651432copy number variation1nstd229human GRCh38 chr1: 52,677,090-52,689,441 , GRCh37.p13 chr1: 53,142,762-53,155,113 COA7
    nsv6650900copy number variation1nstd229human GRCh38 chr1: 52,693,821-52,710,765 , GRCh37.p13 chr1: 53,159,493-53,176,437 NDUFS5P3, COA7
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6545734inversion1nstd223human GRCh38 chr1: 52,682,623-52,682,988 , GRCh37.p13 chr1: 53,148,295-53,148,660 COA7
    nsv6542734inversion1nstd223human GRCh38 chr1: 52,690,900-52,691,573 , GRCh37.p13 chr1: 53,156,572-53,157,245 COA7
    nsv6310881copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,153,392-53,493,763 , GRCh38.p12 chr1: 52,687,720-53,028,091 LOC100652967, ECHDC2, 13 more genes
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv6042349insertion1nstd212human GRCh38 chr1: 52,688,456-52,688,456 , GRCh37.p13 chr1: 53,154,128-53,154,128 COA7
    nsv5830057copy number variation1nstd209human GRCh38 chr1: 52,682,842-52,684,741 , GRCh37.p13 chr1: 53,148,514-53,150,413 COA7
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5292023copy number variation1nstd204human GRCh38.p13 chr1: 52,693,302-52,695,067 , GRCh37.p13 chr1: 53,158,974-53,160,739 COA7
    nsv4903500copy number variation1nstd200human GRCh38 chr1: 52,693,821-52,710,767 , GRCh37.p13 chr1: 53,159,493-53,176,439 NDUFS5P3, COA7
    nsv4890182copy number variation1nstd200human GRCh38 chr1: 52,694,368-52,696,980 , GRCh37.p13 chr1: 53,160,040-53,162,652 COA7
    nsv4890181copy number variation1nstd200human GRCh38 chr1: 52,677,070-52,689,440 , GRCh37.p13 chr1: 53,142,742-53,155,112 COA7
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
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