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Items: 1 to 20 of 38

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv997156copy number variation2nstd45humanPathogenic GRCh37 chrX: 153,287,264-153,363,188 , GRCh38.p12 chrX: 154,021,813-154,097,731 MECP2
    nsv997056copy number variation1nstd45humanPathogenic GRCh37 chr7: 156,583,796-156,584,568 , GRCh38.p12 chr7: 156,791,102-156,791,874 LMBR1
    nsv3870471copy number variation1nstd45humanBenign GRCh37 chrX: 6,451,659-6,453,159 , GRCh38.p12 chrX: 6,533,618-6,535,118 VCX3A
    nsv997223copy number variation1nstd45humanPathogenic GRCh37 chr5: 126,112,315-126,172,712 , GRCh38.p12 chr5: 126,776,623-126,837,020 LMNB1, LMNB1-DT
    nsv491541copy number variation2nstd45humanPathogenic GRCh37 chrX: 103,031,434-103,047,548 , GRCh38.p12 chrX: 103,776,506-103,792,619 PLP1, RAB9B
    nsv3319010copy number variation2nstd45humanPathogenic, Benign GRCh37 chr15: 32,019,621-32,445,405 , GRCh38.p12 chr15: 31,727,418-32,153,204 , GRCh38.p12 chr15|NT_187660.1: 4,012,554-4,438,358 , GRCh38.p12 chr15|NW_011332701.1: 3,900,102-4,325,906 CHRNA7, OTUD7A, 1 more genes
    nsv997068copy number variation1nstd45humanPathogenic GRCh37 chr6: 144,243,292-144,416,561 , GRCh38.p12 chr6: 143,922,155-144,095,424 PLAGL1, HYMAI, 3 more genes
    nsv3170328copy number variation1nstd45humanBenign GRCh37 chr15: 22,832,519-23,090,897 , GRCh38.p12 chr15: 22,782,171-23,040,549 , GRCh38.p12 chr15|NT_187603.1: 1-137,251 CYFIP1, NIPA2, 2 more genes
    nsv491521copy number variation2nstd45humanBenign GRCh37 chr6: 259,528-339,802 , GRCh38.p12 chr6: 259,528-339,802 DUSP22, LOC102723922, 1 more genes
    nsv491503copy number variation2nstd45humanPathogenic, Benign GRCh37 chrX: 6,455,812-8,124,954 , GRCh38.p12 chrX: 6,537,771-8,156,913 STS, PUDP, 7 more genes
    nsv491531copy number variation3nstd45humanPathogenic GRCh38.p12 chr15: 23,319,714-28,134,728 , GRCh37 chr15: 22,832,519-28,379,874 , GRCh38.p12 chr15|NW_011332701.1: 1-4,542,614 APBA2, CHRNA7, 258 more genes
    nsv491525copy number variation3nstd45humanPathogenic GRCh38.p12 chr15: 23,502,849-28,134,728 , GRCh37 chr15: 23,747,996-28,379,874 GABRA5, GABRB3, 142 more genes
    nsv3170330copy number variation1nstd45humanPathogenic GRCh37 chrX: 48,306,152-52,103,258 , GRCh38.p12 chrX: 48,447,780-52,360,115 CACNA1F, CLCN5, 117 more genes
    nsv491561copy number variation2nstd45humanPathogenic GRCh38.p12 chr8: 8,261,773-11,908,210 , GRCh37 chr8: 8,119,295-11,765,719 , GRCh38.p12 chr8|NW_018654717.1: 1,439,840-5,086,091 BLK, CTSB, 80 more genes
    nsv491536copy number variation2nstd45humanPathogenic GRCh37 chr17: 16,810,028-20,213,202 , GRCh38.p12 chr17: 16,906,714-20,309,889 ALDH3A1, ALDH3A2, 130 more genes
    nsv491538copy number variation2nstd45humanPathogenic GRCh38.p12 chr22: 18,339,130-21,111,383 , GRCh37 chr22: 18,912,231-21,465,672 ARVCF, COMT, 127 more genes
    nsv491539copy number variation2nstd45humanPathogenic GRCh38.p12 chr22: 21,562,828-23,306,924 , GRCh37 chr22: 21,917,117-23,649,111 BCR, BCRP4, 147 more genes
    nsv491562copy number variation2nstd45humanPathogenic GRCh37 chr7: 72,744,455-74,142,510 , GRCh38.p12 chr7: 73,330,452-74,728,172 CLDN4, CLDN3, 34 more genes
    nsv491563copy number variation2nstd45humanPathogenic GRCh37 chr17: 34,815,072-36,192,489 , GRCh38.p12 chr17: 36,459,259-37,832,869 , GRCh38.p12 chr17|NT_187614.1: 694,163-2,071,554 ACACA, LHX1, 35 more genes
    nsv491547copy number variation2nstd45humanPathogenic GRCh38.p12 chr22: 18,924,718-20,299,685 , GRCh37 chr22: 18,912,231-20,287,208 ARVCF, COMT, 60 more genes
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