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Items: 1 to 20 of 16924

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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
    nsv6137708copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 42,981,187-42,987,120 , GRCh38.p12 chr20: 44,352,547-44,358,480 HNF4A, R3HDML-AS1
    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
    nsv6130568insertion1nstd186human GRCh37 chr14: 76,962,694-76,962,744 , GRCh38.p12 chr14: 76,496,351-76,496,401 ESRRB
    nsv6121335copy number variation1nstd186human GRCh37 chr9: 127,330,755-127,331,355 , GRCh38.p12 chr9: 124,568,476-124,569,076 NR6A1
    nsv6118394copy number variation1nstd186human GRCh37 chr3: 25,291,341-25,291,415 , GRCh38.p12 chr3: 25,249,850-25,249,924 , RARB
    nsv6114170mobile element insertion1nstd186human GRCh37 chr22: 46,623,035-46,623,035 , GRCh38.p12 chr22: 46,227,138-46,227,138 PPARA
    nsv6113079mobile element insertion1nstd186human GRCh37 chr15: 60,929,296-60,929,347 , GRCh38.p12 chr15: 60,637,097-60,637,148 RORA, LOC105370846
    nsv6113034mobile element insertion1nstd186human GRCh37 chr3: 24,348,776-24,348,820 , GRCh38.p12 chr3: 24,307,285-24,307,329 THRB
    nsv6112954mobile element insertion1nstd186human GRCh37 chr15: 60,992,783-60,992,834 , GRCh38.p12 chr15: 60,700,584-60,700,635 RORA
    nsv6112754copy number variation1nstd102humanPathogenic GRCh37 chr4: 131,303,317-168,722,402 , GRCh38.p12 chr4: 130,382,162-167,801,251 MIR3139, CLGN, 407 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 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
    nsv5980265insertion1nstd209human GRCh38 chr15: 60,943,916-60,943,916 , GRCh37.p13 chr15: 61,236,115-61,236,115 RORA
    nsv5979526insertion1nstd209human GRCh38 chr20: 44,404,776-44,404,776 , GRCh37.p13 chr20: 43,033,416-43,033,416 HNF4A
    nsv5979472insertion1nstd209human GRCh38 chr15: 60,597,539-60,597,539 , GRCh37.p13 chr15: 60,889,738-60,889,738 RORA, RORA-AS1
    nsv5978973insertion1nstd209human GRCh38 chr15: 61,053,848-61,053,848 , GRCh37.p13 chr15: 61,346,047-61,346,047 RORA, LOC107984805
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
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