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Items: 1 to 20 of 5130532

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3071868copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr12: 23,576,498-24,606,647 , GRCh37 (hg19) chr12: 23,685,231-24,715,380 , GRCh38 (hg38) chr12: 23,532,297-24,562,446 MIR920, SOX5-AS1, 1 more genes
    nsv3071867copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr10: 81,673,628-88,733,220 , GRCh37 (hg19) chr10: 81,683,648-88,743,240 , GRCh38 (hg38) chr10: 79,923,892-86,983,483 HMGN2P8, BMS1P21, 39 more genes
    nsv3071866copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr9: 129,617,112-129,656,868 , GRCh37 (hg19) chr9: 130,577,291-130,617,047 , GRCh38 (hg38) chr9: 127,815,012-127,854,768 RNA5SP296, ENG
    nsv3071865copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr9: 85,772,818-85,785,389 , GRCh37 (hg19) chr9: 86,582,998-86,595,569 , GRCh38 (hg38) chr9: 83,968,083-83,980,654 HNRNPK, MIR7-1, 1 more genes
    nsv3071864copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr1: 241,354,353-243,384,910 , GRCh37 (hg19) chr1: 243,287,730-245,318,287 , GRCh38 (hg38) chr1: 243,124,428-245,154,985 AKT3, MIR4677, 13 more genes
    nsv3071863copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr12: 50,587,469-50,603,412 , GRCh37 (hg19) chr12: 52,301,202-52,317,145 , GRCh38 (hg38) chr12: 51,907,418-51,923,361 ACVRL1
    nsv3071862copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr8: 11,599,126-11,654,918 , GRCh37 (hg19) chr8: 11,561,717-11,617,509 , GRCh38 (hg38) chr8: 11,704,208-11,760,000 SNORA99, GATA4
    nsv3071861copy number variation1nstd45humanPathogenic NCBI36 (hg18) chrX: 109,803,740-109,925,942 , GRCh37 (hg19) chrX: 109,917,084-110,039,286 , GRCh38 (hg38) chrX: 110,673,856-110,796,058 CHRDL1
    nsv3071860copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr17: 17,056,251-17,081,227 , GRCh37 (hg19) chr17: 17,115,526-17,140,502 , GRCh38 (hg38) chr17: 17,212,212-17,237,188 FLCN
    nsv3071859copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr1: 61,315,534-61,701,048 , GRCh37 (hg19) chr1: 61,542,946-61,928,460 , GRCh38 (hg38) chr1: 61,077,274-61,462,788 NFIA, NFIA-AS1
    nsv3071858copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr15: 81,011,043-82,505,738 , GRCh37 (hg19) chr15: 83,213,988-84,714,734 , GRCh38 (hg38) chr15: 82,627,214-84,045,982 RPS17L, SNHG21, 16 more genes
    nsv3071857copy number variation1nstd45humanPathogenic NCBI36 (hg18) chr2: 189,547,344-189,585,717 , GRCh37 (hg19) chr2: 189,839,099-189,877,472 , GRCh38 (hg38) chr2: 188,974,373-189,012,746 MIR1245A, MIR3606, 2 more genes
    nsv3071855insertion1nstd90human GRCh37 (hg19) chr6: 70,277,182-70,277,183 , GRCh38 (hg38) chr6: 69,567,290-69,567,291 0
    nsv3071854insertion1nstd90human GRCh37 (hg19) chr8: 107,728,900-107,728,900 , GRCh38 (hg38) chr8: 106,716,672-106,716,672 OXR1
    nsv3071853insertion1nstd90human GRCh37 (hg19) chr12: 123,937,717-123,937,718 , GRCh38 (hg38) chr12: 123,453,170-123,453,171 0
    nsv3071852insertion1nstd90human GRCh37 (hg19) chr10: 107,252,998-107,252,998 , GRCh38 (hg38) chr10: 105,493,240-105,493,240 0
    nsv3071851indel1nstd90human GRCh37 (hg19) chr10: 392,894-393,343 , GRCh38 (hg38) chr10: 346,954-347,403 DIP2C
    nsv3071850insertion1nstd90human GRCh37 (hg19) chr7: 155,140,500-155,140,500 , GRCh38 (hg38) chr7: 155,347,801-155,347,801 0
    nsv3071849insertion1nstd90human GRCh37 (hg19) chr4: 1,138,791-1,138,792 , GRCh38 (hg38) chr4: 1,145,003-1,145,004 0
    nsv3071848copy number variation1nstd90human GRCh37 (hg19) chr10: 133,026,503-133,027,087 , GRCh38 (hg38) chr10: 131,228,240-131,228,824 TCERG1L
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