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Items: 1 to 20 of 296

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980234inversion1nstd209human GRCh38 chr2: 130,052,690-131,284,721 , GRCh37.p13 chr2: 130,810,263-132,042,294 , PTPN18, 55 more genes
    nsv5968094inversion1nstd209human GRCh38 chr2: 130,018,896-131,305,572 , GRCh37.p13 chr2: 130,776,469-132,063,145 , PTPN18, 61 more genes
    nsv5721150mobile element insertion1nstd211human GRCh38 chr2: 130,281,141-130,281,141 , GRCh37.p13 chr2: 131,038,714-131,038,714 MTND5P29, MTND6P8, 1 more genes
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5449088copy number variation1nstd206human GRCh38 chr2: 130,087,618-130,459,618 , GRCh37.p13 chr2: 130,845,191-131,217,191 NOC2LP1, PTPN18, 32 more genes
    nsv5443971copy number variation1nstd206human GRCh38 chr2: 130,055,618-130,497,618 , GRCh37.p13 chr2: 130,813,191-131,255,191 MZT2B, NOC2LP1, 33 more genes
    nsv5331910translocation1nstd200human GRCh38.p12 chr2: 130,282,392-130,282,392 , GRCh38.p12 chr2: 131,369,875-131,369,875 , GRCh37 chr2: 131,039,965-131,039,965 , GRCh37 chr2: 132,127,448-132,127,448 MTND5P23, MTND5P29, 4 more genes
    nsv5327037inversion1nstd204human GRCh37.p13 chr2: 130,942,902-132,247,079 , GRCh38.p13 chr2: 130,185,329-131,489,506 , PTPN18, 79 more genes
    nsv5209791copy number variation1nstd204human GRCh38.p13 chr2: 130,227,912-130,281,992 , GRCh37.p13 chr2: 130,985,485-131,039,565 MTND2P22, MED15P5, 12 more genes
    nsv5037689inversion1nstd200human GRCh38 chr2: 130,226,386-131,459,405 , GRCh37.p13 chr2: 130,983,959-132,216,978 , MTND6P10, 73 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4889214inversion1nstd200human GRCh37 chr2: 130,983,959-132,216,978 , GRCh38.p12 chr2: 130,226,386-131,459,405 , KLF2P2, 73 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4680080copy number variation1nstd189human GRCh37.p13 chr2: 130,372,050-131,039,688 , GRCh38.p12 chr2: 129,614,477-130,282,115 SMPD4, MZT2B, 35 more genes
    nsv4583568copy number variation2nstd183human GRCh37 chr2: 130,699,502-131,293,326 , GRCh38.p12 chr2: 129,941,929-130,535,753 KLF2P1, RHOQP3, 44 more genes
    nsv4582207copy number variation1nstd183human GRCh37 chr2: 130,934,619-131,238,533 , GRCh38.p12 chr2: 130,177,046-130,480,960 TRE-TTC1-1, TEKT4P3, 27 more genes
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