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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv2779153copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chr3: 176,046,972-177,377,096 , GRCh38 (hg38) chr3: 176,329,184-177,659,308 , NCBI36 (hg18) chr3: 177,529,666-178,859,790 LINC01208, LINC00578, 5 more genes
    nsv2770647copy number variation1nstd37humanLikely pathogenic GRCh37 (hg19) chr1: 10,722,955-12,910,774 , GRCh38 (hg38) chr1: 10,662,898-12,850,921 , NCBI36 (hg18) chr1: 10,645,542-12,833,361 NPPA-AS1, MIR4632, 45 more genes
    nsv2770501copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chrX: 1,700,099-2,221,455 , GRCh38 (hg38) chrX: 1,581,206-2,303,414 , NCBI36 (hg18) chrX: 1,660,099-2,231,455 DHRSX, ASMT, 1 more genes
    nsv2769840copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chrX: 128,311,362-129,281,516 , GRCh38 (hg38) chrX: 129,177,385-130,147,541 , NCBI36 (hg18) chrX: 128,139,043-129,109,197 RNA5SP513, UTP14A, 10 more genes
    nsv2769091copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chr16: 6,278,880-7,092,135 , GRCh38 (hg38) chr16: 6,228,879-7,042,134 , NCBI36 (hg18) chr16: 6,218,881-7,032,136 RBFOX1
    nsv1067848copy number variation1nstd51humanPathogenic GRCh37 (hg19) chr1: 156,844,810-156,846,190 , GRCh38 (hg38) chr1: 156,875,018-156,876,398 NTRK1
    nsv995982copy number variation1nstd37humanLikely benign GRCh37 (hg19) chr5: 37,165,468-37,721,880 , GRCh38 (hg38) chr5: 37,165,366-37,721,778 , NCBI36 (hg18) chr5: 37,201,225-37,757,637 WDR70, C5orf42, 1 more genes
    nsv995676copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chr1: 49,361,630-49,667,917 , GRCh38 (hg38) chr1: 48,895,958-49,202,245 , NCBI36 (hg18) chr1: 49,134,217-49,440,504 AGBL4
    nsv995662copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chr3: 1,316,859-2,401,051 , GRCh38 (hg38) chr3: 1,275,175-2,359,367 , NCBI36 (hg18) chr3: 1,291,859-2,376,051 CNTN4-AS2, CNTN4, 1 more genes
    nsv932302copy number variation2nstd37humanPathogenic GRCh37 (hg19) chr22: 18,916,828-20,312,661 , GRCh38 (hg38) chr22: 18,929,315-20,325,138 , NCBI36 (hg18) chr22: 17,296,828-18,692,661 MIR1286, MIR1306, 41 more genes
    nsv931059copy number variation1nstd37humanUncertain significance NCBI36 (hg18) chr2: 51,011,745-51,040,662 , GRCh37 (hg19) chr2: 51,158,241-51,187,158 , GRCh38 (hg38) chr2: 50,931,103-50,960,020 NRXN1
    nsv529245copy number variation2nstd37humanPathogenic, Uncertain significance NCBI36 (hg18) chr16: 15,311,953-18,214,355 , GRCh37 (hg19) chr16: 15,404,452-18,306,854 , GRCh38 (hg38) chr16: 15,310,595-18,212,997 , GRCh38 (hg38) chr16|NT_187607.1: 340,422-2,659,700 NPIPA5, MIR1972-1, 32 more genes
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