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Items: 1 to 20 of 12895

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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
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6131629insertion1nstd186human GRCh37 chr19: 44,169,865-44,169,865 , GRCh38.p12 chr19: 43,665,713-43,665,713 PLAUR
    nsv6130182insertion1nstd186human GRCh37 chr12: 109,229,664-109,229,685 , GRCh38.p12 chr12: 108,835,888-108,835,909 MIR619, SSH1
    nsv6129904insertion1nstd186human GRCh37 chr19: 44,160,406-44,160,444 , GRCh38.p12 chr19: 43,656,254-43,656,292 PLAUR
    nsv6126602copy number variation1nstd186human GRCh37 chr19: 39,625,092-39,625,417 , GRCh38.p12 chr19: 39,134,452-39,134,777 PAK4
    nsv6121586copy number variation1nstd186human GRCh37 chr12: 69,871,216-69,871,674 , GRCh38.p12 chr12: 69,477,436-69,477,894 FRS2
    nsv6120330copy number variation1nstd186human GRCh37 chr5: 141,976,241-141,976,343 , GRCh38.p12 chr5: 142,596,676-142,596,778 FGF1
    nsv6113949copy number variation1nstd186human GRCh37 chr16: 2,625,326-2,630,501 , GRCh38.p12 chr16: 2,575,325-2,580,500 PDPK1
    nsv6112812copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,200,008 , GRCh38.p12 chr16: 29,663,729-30,188,687 INO80E, QPRT, 33 more genes
    nsv6112806copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,221 , GRCh38.p12 chr16: 29,663,729-30,206,900 YPEL3-DT, PAGR1, 38 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
    nsv6112788copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,615,859-30,199,454 , GRCh38.p12 chr16: 29,604,538-30,188,133 ALDOA, MVP, 36 more genes
    nsv6112765copy number variation1nstd102humanPathogenic GRCh37 chr10: 118,247,181-135,435,319 , GRCh38.p12 chr10: 116,487,669-133,621,815 STK32C, LOC105378542, 266 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv6112755copy number variation1nstd102humanPathogenic GRCh37 chr12: 65,251,705-75,263,379 , GRCh38.p12 chr12: 64,857,925-74,869,599 LINC02421, TBC1D15, 144 more genes
    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
    nsv6112730copy number variation1nstd102humanPathogenic GRCh37 chr12: 4,477,393-4,488,878 , GRCh38.p12 chr12: 4,368,227-4,379,712 FGF23
    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
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