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Items: 1 to 20 of 341

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7075030inversion1nstd229human GRCh38 chr21: 39,418,624-39,425,907 , GRCh37.p13 chr21: 40,790,550-40,797,833 LCA5L, GET1-SH3BGR, 1 more genes
    nsv7074221inversion1nstd229human GRCh38 chr21: 39,406,996-39,418,787 , GRCh37.p13 chr21: 40,778,922-40,790,713 GET1-SH3BGR, GET1, 1 more genes
    nsv7032613copy number variation1nstd229human GRCh38 chr21: 39,404,931-39,413,318 , GRCh37.p13 chr21: 40,776,857-40,785,244 GET1, GET1-SH3BGR, 1 more genes
    nsv7031849copy number variation1nstd229human GRCh38 chr21: 39,420,300-39,421,336 , GRCh37.p13 chr21: 40,792,226-40,793,262 GET1, GET1-SH3BGR, 1 more genes
    nsv7030226copy number variation1nstd229human GRCh38 chr21: 39,177,601-39,546,000 , GRCh37.p13 chr21: 40,549,527-40,917,927 LCA5L, BRWD1-AS1, 15 more genes
    nsv7029284copy number variation1nstd229human GRCh38 chr21: 39,421,212-39,428,121 , GRCh37.p13 chr21: 40,793,138-40,800,047 GET1-SH3BGR, GET1, 1 more genes
    nsv7028477copy number variation1nstd229human GRCh38 chr21: 39,348,101-39,483,400 , GRCh37.p13 chr21: 40,720,027-40,855,326 HMGN1, GET1, 6 more genes
    nsv7027799copy number variation1nstd229human GRCh38 chr21: 39,422,052-39,433,542 , GRCh37.p13 chr21: 40,793,978-40,805,468 GET1, LCA5L, 1 more genes
    nsv7024455copy number variation1nstd229human GRCh38 chr21: 39,418,601-39,423,500 , GRCh37.p13 chr21: 40,790,527-40,795,426 GET1-SH3BGR, GET1, 1 more genes
    nsv7022524copy number variation1nstd229human GRCh38 chr21: 39,360,298-39,893,138 , GRCh37.p13 chr21: 40,732,224-41,265,063 LOC105372804, RPS26P4, 14 more genes
    nsv7019058copy number variation1nstd229human GRCh38 chr21: 39,428,946-39,440,300 , GRCh37.p13 chr21: 40,800,872-40,812,226 GET1-SH3BGR, GET1, 1 more genes
    nsv6637262copy number variation1nstd102humanUncertain significance GRCh37 chr21: 40,219,284-41,569,839 , GRCh38.p12 chr21: 38,847,360-40,197,912 LCA5L, JCADP1, 30 more genes
    nsv6627155copy number variation1nstd224human GRCh37 chr21: 40,748,801-40,782,203 , GRCh38.p12 chr21: 39,376,875-39,410,277 LCA5L, GET1, 1 more genes
    nsv6627013copy number variation1nstd224human GRCh37 chr21: 40,780,560-40,795,408 , GRCh38.p12 chr21: 39,408,634-39,423,482 GET1-SH3BGR, LCA5L, 1 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599729inversion1nstd223human GRCh38 chr21: 39,309,620-39,889,637 , GRCh37.p13 chr21: 40,681,546-41,261,562 HMGN1, PCP4, 18 more genes
    nsv6599705inversion1nstd223human GRCh38 chr21: 39,420,404-39,421,188 , GRCh37.p13 chr21: 40,792,330-40,793,114 GET1, LCA5L, 1 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6598226inversion1nstd223human GRCh38 chr21: 39,418,812-39,419,324 , GRCh37.p13 chr21: 40,790,738-40,791,250 GET1, LCA5L, 1 more genes
    nsv6597047inversion1nstd223human GRCh38 chr21: 39,404,735-39,404,889 , GRCh37.p13 chr21: 40,776,661-40,776,815 GET1, LCA5L, 1 more genes
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