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Items: 1 to 20 of 273

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099210copy number variation1nstd231human GRCh38.p12 chr1: 66,256,800-84,953,993 , GRCh37 chr1: 66,722,483-85,419,676 ACADM, COX6A1P1, 211 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7095538copy number variation1nstd102humanPathogenic GRCh37 chr1: 65,299,551-67,861,772 , GRCh38.p12 chr1: 64,833,868-67,396,089 MRPS21P1, MIER1, 36 more genes
    nsv7055498inversion1nstd229human GRCh38 chr1: 66,514,766-73,182,042 , GRCh37.p13 chr1: 66,980,449-73,647,725 LINC02796, LOC105378789, 80 more genes
    nsv7054976inversion1nstd229human GRCh38 chr1: 66,778,824-69,400,485 , GRCh37.p13 chr1: 67,244,507-69,866,168 ELOCP18, MIR1262, 40 more genes
    nsv6653381copy number variation1nstd229human GRCh38 chr1: 66,899,693-67,037,061 , GRCh37.p13 chr1: 67,365,376-67,502,744 DNAI4, SLC35D1, 1 more genes
    nsv6653245copy number variation1nstd229human GRCh38 chr1: 66,997,700-67,001,691 , GRCh37.p13 chr1: 67,463,383-67,467,374 SLC35D1
    nsv6653244copy number variation1nstd229human GRCh38 chr1: 66,986,485-66,998,262 , GRCh37.p13 chr1: 67,452,168-67,463,945 SLC35D1, MIER1
    nsv6634525copy number variation1nstd102humanPathogenic GRCh38 chr1: 67,044,094-67,049,052 , GRCh37 chr1: 67,509,777-67,514,735 SLC35D1
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv6335111copy number variation1nstd223human GRCh38 chr1: 67,017,362-67,017,719 , GRCh37.p13 chr1: 67,483,045-67,483,402 SLC35D1
    nsv6333048copy number variation1nstd223human GRCh38 chr1: 67,053,401-67,053,900 , GRCh37.p13 chr1: 67,519,084-67,519,583 SLC35D1
    nsv6324265copy number variation1nstd223human GRCh38 chr1: 67,050,301-67,052,400 , GRCh37.p13 chr1: 67,515,984-67,518,083 SLC35D1
    nsv6322400copy number variation1nstd223human GRCh38 chr1: 67,004,961-67,005,335 , GRCh37.p13 chr1: 67,470,644-67,471,018 SLC35D1
    nsv6319428copy number variation1nstd223human GRCh38 chr1: 67,035,212-67,035,910 , GRCh37.p13 chr1: 67,500,895-67,501,593 SLC35D1
    nsv6316206copy number variation1nstd223human GRCh38 chr1: 67,015,901-67,016,800 , GRCh37.p13 chr1: 67,481,584-67,482,483 SLC35D1
    nsv6315306copy number variation1nstd102humanUncertain significance GRCh38 chr1: 66,885,559-77,949,895 , GRCh37.p13 chr1: 67,351,242-78,415,580 DNAJB6P4, LRRC7, 137 more genes
    nsv6313537copy number variation1nstd102humanUncertain significance GRCh37 chr1: 65,125,111-69,186,543 , GRCh38.p12 chr1: 64,659,428-68,720,860 RPE65, DNAJB6P4, 64 more genes
    nsv6042389insertion1nstd212human GRCh38 chr1: 67,013,158-67,013,158 , GRCh37.p13 chr1: 67,478,841-67,478,841 SLC35D1
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