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Items: 1 to 20 of 33726

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137741copy number variation1nstd102humanBenign GRCh38 chr13: 48,459,928-48,459,979 , GRCh37 chr13: 49,034,064-49,034,115 RB1
    nsv6137675copy number variation1nstd102humanLikely benign GRCh37 chr17: 40,489,900-40,489,959 , GRCh38 chr17: 42,337,882-42,337,941 STAT3
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 more genes
    nsv6137655copy number variation1nstd102humannot provided GRCh38 chr2: 46,297,264-46,409,828 , GRCh37.p13 chr2: 46,524,403-46,636,967 EPAS1, LINC01820
    nsv6131489insertion1nstd186human GRCh37 chr12: 124,818,574-124,818,586 , GRCh38.p12 chr12: 124,334,028-124,334,040 NCOR2
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6131306insertion1nstd186human GRCh37 chr20: 35,698,248-35,698,248 , GRCh38.p12 chr20: 37,069,845-37,069,845 RBL1
    nsv6131267mobile element insertion1nstd186human GRCh37 chr15: 61,328,974-61,329,025 , GRCh38.p12 chr15: 61,036,775-61,036,826 LOC107984805, RORA
    nsv6131161insertion1nstd186human GRCh37 chr15: 60,809,684-60,809,713 , GRCh38.p12 chr15: 60,517,485-60,517,514 RORA, RORA-AS1
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130760insertion1nstd186human GRCh37 chr20: 32,788,778-32,788,823 , GRCh38.p12 chr20: 34,200,972-34,201,017 ASIP
    nsv6130477insertion1nstd186human GRCh37 chr20: 48,136,480-48,136,521 , GRCh38.p12 chr20: 49,519,943-49,519,984 PTGIS
    nsv6130243insertion1nstd186human GRCh37 chr12: 102,799,045-102,799,080 , GRCh38.p12 chr12: 102,405,267-102,405,302 IGF1, LINC02456
    nsv6130205insertion1nstd186human GRCh37 chr12: 124,863,582-124,863,629 , GRCh38.p12 chr12: 124,379,036-124,379,083 NCOR2
    nsv6129919insertion1nstd186human GRCh37 chr13: 49,034,021-49,034,021 , GRCh38.p12 chr13: 48,459,885-48,459,885 RB1
    nsv6129890insertion1nstd186human GRCh37 chr17: 17,719,514-17,719,554 , GRCh38.p12 chr17: 17,816,200-17,816,240 SREBF1
    nsv6126080copy number variation1nstd186human GRCh37 chr20: 32,815,938-32,819,225 , GRCh38.p12 chr20: 34,228,132-34,231,419 ASIP
    nsv6123208copy number variation1nstd186human GRCh37 chr12: 124,923,290-124,923,828 , GRCh38.p12 chr12: 124,438,744-124,439,282 NCOR2
    nsv6122154copy number variation1nstd186human GRCh37 chr15: 67,404,495-67,405,594 , GRCh38.p12 chr15: 67,112,157-67,113,256 SMAD3
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