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Items: 1 to 20 of 295

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096139copy number variation1nstd102humanPathogenic GRCh37 chr2: 223,066,643-223,163,334 , GRCh38.p12 chr2: 222,201,924-222,298,615 LOC107985991, CCDC140, 1 more genes
    nsv7056278inversion1nstd229human GRCh38 chr2: 220,988,202-223,580,062 , GRCh37.p13 chr2: 221,852,922-224,444,780 ACSL3, LOC105373907, 34 more genes
    nsv7051770inversion1nstd229human GRCh38 chr2: 219,672,325-222,634,776 , GRCh37.p13 chr2: 220,537,047-223,499,495 LOC107985990, HSPA9P1, 31 more genes
    nsv6688316copy number variation1nstd229human GRCh38 chr2: 222,269,669-222,273,338 , GRCh37.p13 chr2: 223,134,388-223,138,057 PAX3
    nsv6687017copy number variation1nstd229human GRCh38 chr2: 222,281,601-222,284,600 , GRCh37.p13 chr2: 223,146,320-223,149,319 PAX3
    nsv6684228copy number variation1nstd229human GRCh38 chr2: 222,285,033-222,286,604 , GRCh37.p13 chr2: 223,149,752-223,151,323 PAX3
    nsv6683707copy number variation1nstd229human GRCh38 chr2: 221,931,966-222,203,784 , GRCh37.p13 chr2: 222,796,685-223,068,503 HSPA9P1, LOC105373900, 3 more genes
    nsv6682552copy number variation1nstd229human GRCh38 chr2: 222,257,299-222,262,823 , GRCh37.p13 chr2: 223,122,018-223,127,542 PAX3
    nsv6682174copy number variation1nstd229human GRCh38 chr2: 222,294,001-222,313,200 , GRCh37.p13 chr2: 223,158,720-223,177,919 PAX3, CCDC140
    nsv6680121copy number variation1nstd229human GRCh38 chr2: 222,257,953-222,260,708 , GRCh37.p13 chr2: 223,122,672-223,125,427 PAX3
    nsv6678552copy number variation1nstd229human GRCh38 chr2: 221,927,501-222,269,700 , GRCh37.p13 chr2: 222,792,220-223,134,419 RPL23AP28, HSPA9P1, 4 more genes
    nsv6678253copy number variation1nstd229human GRCh38 chr2: 222,195,087-222,198,684 , GRCh37.p13 chr2: 223,059,806-223,063,403 PAX3
    nsv6678131copy number variation1nstd229human GRCh38 chr2: 222,252,407-222,362,826 , GRCh37.p13 chr2: 223,117,126-223,227,545 CT75, PAX3, 1 more genes
    nsv6548771inversion1nstd223human GRCh38 chr2: 222,209,701-222,210,997 , GRCh37.p13 chr2: 223,074,420-223,075,716 PAX3
    nsv6546900inversion1nstd223human GRCh38 chr2: 220,988,201-223,580,063 , GRCh37.p13 chr2: 221,852,921-224,444,781 ATG12P2, LOC105373902, 34 more genes
    nsv6348056copy number variation1nstd223human GRCh38 chr2: 222,248,564-222,249,096 , GRCh37.p13 chr2: 223,113,283-223,113,815 PAX3
    nsv6335924copy number variation1nstd223human GRCh38 chr2: 222,277,001-222,336,300 , GRCh37.p13 chr2: 223,141,720-223,201,019 CCDC140, PAX3, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315345copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,902,251-226,084,516 , GRCh38.p12 chr2: 222,037,532-225,219,799 LOC105373911, LOC105373908, 43 more genes
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