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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6649908copy number variation1nstd229human GRCh38 chr1: 40,548,369-40,550,344 , GRCh37.p13 chr1: 41,014,041-41,016,016 ZNF684
    nsv6649884copy number variation1nstd229human GRCh38 chr1: 40,527,440-40,535,735 , GRCh37.p13 chr1: 40,993,112-41,001,407 ZNF684
    nsv6649386copy number variation1nstd229human GRCh38 chr1: 40,543,755-40,546,831 , GRCh37.p13 chr1: 41,009,427-41,012,503 ZNF684
    nsv6636519copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,758,393-41,009,559 , GRCh38.p12 chr1: 40,292,721-40,543,887 COL9A2, SMAP2, 7 more genes
    nsv6626450copy number variation1nstd224human GRCh37 chr1: 40,960,619-41,010,454 , GRCh38.p12 chr1: 40,494,947-40,544,782 ZNF684, EXO5-DT, 2 more genes
    nsv6549541inversion1nstd223human GRCh38 chr1: 40,537,526-40,538,174 , GRCh37.p13 chr1: 41,003,198-41,003,846 ZNF684
    nsv6334755copy number variation1nstd223human GRCh38 chr1: 40,543,754-40,546,838 , GRCh37.p13 chr1: 41,009,426-41,012,510 ZNF684
    nsv6333995copy number variation1nstd223human GRCh38 chr1: 40,496,501-40,591,900 , GRCh37.p13 chr1: 40,962,173-41,057,572 ZFP69, GTF2F2P2, 5 more genes
    nsv6325006copy number variation1nstd223human GRCh38 chr1: 40,533,601-40,715,200 , GRCh37.p13 chr1: 40,999,273-41,180,872 NFYC, RIMS3, 6 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5340493translocation1nstd200human GRCh37 chr1: 40,997,972-40,997,972 , GRCh37 chr1: 40,997,870-40,997,870 , GRCh38.p12 chr1: 40,532,198-40,532,198 , GRCh38.p12 chr1: 40,532,300-40,532,300 ZNF684
    nsv5067995mobile element insertion1nstd203human GRCh38 chr1: 40,537,224-40,537,238 , GRCh37.p13 chr1: 41,002,896-41,002,910 ZNF684
    nsv4906100copy number variation1nstd200human GRCh38 chr1: 40,546,493-40,546,620 , GRCh37.p13 chr1: 41,012,165-41,012,292 ZNF684
    nsv4906099copy number variation1nstd200human GRCh38 chr1: 40,532,198-40,532,300 , GRCh37.p13 chr1: 40,997,870-40,997,972 ZNF684
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
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