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Items: 1 to 20 of 6607

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6131471insertion1nstd186human GRCh37 chr13: 45,799,552-45,799,603 , GRCh38.p12 chr13: 45,225,417-45,225,468 GTF2F2, LOC105370190
    nsv6130640insertion1nstd186human GRCh37 chr19: 18,552,993-18,553,000 , GRCh38.p12 chr19: 18,442,183-18,442,190 ELL
    nsv6129589insertion1nstd186human GRCh37 chr19: 18,553,259-18,553,259 , GRCh38.p12 chr19: 18,442,449-18,442,449 ELL
    nsv6128415copy number variation1nstd186human GRCh37 chr18: 77,499,830-77,500,191 , GRCh38.p12 chr18: 79,739,830-79,740,191 CTDP1
    nsv6123077copy number variation1nstd186human GRCh37 chr13: 45,788,860-45,789,111 , GRCh38.p12 chr13: 45,214,725-45,214,976 GTF2F2
    nsv6115339copy number variation1nstd186human GRCh37 chr18: 44,542,063-44,549,863 , GRCh38.p12 chr18: 46,962,100-46,969,900 KATNAL2, ELOA3DP, 1 more genes
    nsv6113333copy number variation1nstd186human GRCh37 chr18: 44,549,876-44,557,421 , GRCh38.p12 chr18: 47,023,505-47,031,050 ELOA2, KATNAL2, 2 more genes
    nsv6112815copy number variation1nstd102humanPathogenic GRCh37 chr18: 54,285,235-77,960,815 , GRCh38.p12 chr18: 56,618,004-80,202,932 RPL31P9, TRG-TCC5-1, 271 more genes
    nsv6112802copy number variation1nstd102humanPathogenic GRCh37 chr18: 23,626,739-78,014,976 , GRCh38.p12 chr18: 26,046,775-80,257,093 RPL9P31, LINC02582, 595 more genes
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv6112761copy number variation1nstd102humanPathogenic GRCh37 chr4: 69,671-29,702,595 , GRCh38.p12 chr4: 69,779-29,700,973 LOC101928306, PDE6B-AS1, 460 more genes
    nsv6112747copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,598-18,912,995 , GRCh38.p12 chr4: 68,706-18,911,372 GPR78, LOC105374510, 362 more genes
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5979666inversion1nstd209human GRCh38 chr7: 102,358,172-102,550,712 , GRCh37.p13 chr7: 102,072,448-102,191,159 POLR2J, ALKBH4, 13 more genes
    nsv5978562insertion1nstd209human GRCh38 chr13: 45,191,224-45,191,224 , GRCh37.p13 chr13: 45,765,359-45,765,359 GTF2F2, KCTD4
    nsv5977847insertion1nstd209human GRCh38 chr19: 18,442,176-18,442,176 , GRCh37.p13 chr19: 18,552,986-18,552,986 ELL
    nsv5975654insertion1nstd209human GRCh38 chr19: 18,442,449-18,442,449 , GRCh37.p13 chr19: 18,553,259-18,553,259 ELL
    nsv5974799inversion1nstd209human GRCh38 chr19: 12,342,936-19,691,231 , GRCh37.p13 chr19: 12,453,750-19,802,040 , GET3, 322 more genes
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