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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5581341copy number variation1nstd207human GRCh38 chr2: 129,977,839-129,980,980 , GRCh37.p13 chr2: 130,735,412-130,738,553 RAB6C-AS1, RAB6C
    nsv5579624copy number variation1nstd207human GRCh38 chr2: 129,973,479-129,982,068 , GRCh37.p13 chr2: 130,731,052-130,739,641 RAB6C-AS1, RAB6C
    nsv5578185copy number variation1nstd207human GRCh38 chr2: 129,977,842-129,977,939 , GRCh37.p13 chr2: 130,735,415-130,735,512 RAB6C, RAB6C-AS1
    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
    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
    nsv5029738inversion1nstd200human GRCh38 chr2: 129,956,856-130,016,527 , GRCh37.p13 chr2: 130,714,429-130,774,100 RAB6C, LOC646674, 3 more genes
    nsv4888957inversion1nstd200human GRCh37 chr2: 130,714,430-130,774,101 , GRCh38.p12 chr2: 129,956,857-130,016,528 RAB6C, LOC646674, 3 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
    nsv4663983copy number variation1nstd186human GRCh37 chr2: 130,693,938-130,768,228 , GRCh38.p12 chr2: 129,936,365-130,010,655 RAB6C, LOC646674, 5 more genes
    nsv4594947copy number variation1nstd183human GRCh37 chr2: 130,700,925-130,768,228 , GRCh38.p12 chr2: 129,943,352-130,010,655 RAB6C, LOC646674, 4 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
    nsv4582201copy number variation1nstd183human GRCh37 chr2: 130,693,938-130,768,228 , GRCh38.p12 chr2: 129,936,365-130,010,655 RAB6C, LOC646674, 5 more genes
    nsv4542335insertion1nstd166human GRCh37.p13 chr2: 130,737,025-130,737,025 , GRCh38.p12 chr2: 129,979,452-129,979,452 RAB6C, RAB6C-AS1
    nsv4518617copy number variation1nstd166human GRCh37.p13 chr2: 130,546,999-130,770,000 , GRCh38.p12 chr2: 129,789,426-130,012,427 LOC105373616, LOC646674, 9 more genes
    nsv4463376mobile element insertion1nstd166human GRCh37.p13 chr2: 130,739,796-130,739,796 , GRCh38.p12 chr2: 129,982,223-129,982,223 RAB6C
    nsv4412954copy number variation1nstd174human GRCh37 chr2: 130,688,847-130,768,469 , GRCh38.p12 chr2: 129,931,274-130,010,896 RAB6C, PLAC9P1, 6 more genes
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