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Items: 1 to 20 of 16194

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137756copy number variation1nstd102humanBenign GRCh38 chr4: 5,748,550-5,748,617 , GRCh37 chr4: 5,750,277-5,750,344 EVC
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 more genes
    nsv6131661insertion1nstd186human GRCh37 chr16: 90,107,059-90,107,059 , GRCh38.p12 chr16: 90,040,651-90,040,651 GAS8, URAHP
    nsv6131421insertion1nstd186human GRCh37 chr14: 73,820,292-73,820,292 , GRCh38.p12 chr14: 73,353,584-73,353,584 NUMB
    nsv6123429copy number variation1nstd186human GRCh37 chr18: 23,762,725-23,766,215 , GRCh38.p12 chr18: 26,182,761-26,186,251 PSMA8
    nsv6116937mobile element insertion1nstd186human GRCh37 chr20: 1,147,982-1,148,033 , GRCh38.p12 chr20: 1,167,338-1,167,389 PSMF1
    nsv6116876mobile element insertion1nstd186human GRCh37 chr2: 231,982,838-231,982,838 , GRCh38.p12 chr2: 231,118,124-231,118,124 PSMD1, HTR2B
    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
    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
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 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
    nsv6112747copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,598-18,912,995 , GRCh38.p12 chr4: 68,706-18,911,372 GPR78, LOC105374510, 362 more genes
    nsv6112692copy number variation1nstd102humanPathogenic GRCh38 chr7: 42,076,258-42,077,316 , GRCh37 chr7: 42,115,857-42,116,915 GLI3
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 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
    nsv5980203insertion1nstd209human GRCh38 chr20: 1,133,569-1,133,569 , GRCh37.p13 chr20: 1,114,212-1,114,212 PSMF1
    nsv5979766inversion1nstd209human GRCh38 chr9: 124,366,892-124,369,280 , GRCh37.p13 chr9: 127,129,171-127,131,559 PSMB7
    nsv5979532inversion1nstd209human GRCh38 chr4: 4,147,913-9,493,295 , GRCh37.p13 chr4: 4,149,640-9,494,939 , CRMP1, 130 more genes
    nsv5979177inversion1nstd209human GRCh38 chr11: 125,961,131-125,961,366 , GRCh37.p13 chr11: 125,831,026-125,831,261 CDON
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