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Items: 1 to 20 of 105

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5974385inversion1nstd209human GRCh38 chr2: 64,078,330-67,334,176 , GRCh37.p13 chr2: 64,305,464-67,561,308 , MEIS1, 63 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
    nsv4908761copy number variation1nstd200human GRCh38 chr2: 64,936,585-65,402,835 , GRCh37.p13 chr2: 65,163,719-65,629,969 , RPL11P1, 9 more genes
    nsv4674123copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,379,957-66,469,397 , GRCh38.p12 chr2: 65,152,823-66,242,265 VTRNA2-2P, LOC105369167, 12 more genes
    nsv4453429copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,536,353-65,793,944 , GRCh38.p12 chr2: 63,309,218-65,566,810 RPS4XP5, RNU6-548P, 48 more genes
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3912946copy number variation1nstd102humanPathogenic NCBI36 chr2: 63,500,157-66,199,275 , GRCh37.p13 chr2: 63,646,653-66,345,771 , GRCh38.p12 chr2: 63,419,518-66,118,638 CSP1, LINC01805, 52 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3903130copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 64,667,733-69,956,947 , GRCh37 chr2: 64,814,229-70,103,443 , GRCh38 chr2: 64,587,095-69,876,311 ANXA4, GFPT1, 93 more genes
    nsv3900298copy number variation1nstd102humanPathogenic GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597 MIR1285-2, SERTAD2, 404 more genes
    nsv3897743copy number variation1nstd102humanPathogenic GRCh38 chr2: 63,311,999-67,309,291 , GRCh37 chr2: 63,539,134-67,536,423 , NCBI36 chr2: 63,392,638-67,389,927 PELI1, KRT18P33, 68 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3885478copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 61,701,437-65,731,084 , GRCh38.p12 chr2: 61,474,302-65,503,950 MDH1, OTX1, 80 more genes
    nsv3884621copy number variation1nstd102humanBenign GRCh37 chr2: 64,928,527-65,810,588 , GRCh38.p12 chr2: 64,701,393-65,583,454 CEP68, SLC1A4, 20 more genes
    nsv3883931copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879 LINC01888, RNU7-64P, 367 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
    nsv3878609copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,234,780-67,908,846 , GRCh38.p12 chr2: 63,007,645-67,681,714 LINC02245, LOC107985889, 80 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 IGKV2OR2-10, LOC105374848, 3737 more genes
    nsv3169211inversion1nstd158human GRCh37 chr2: 33,091,403-65,533,075 , GRCh38.p12 chr2: 32,866,336-65,305,941 , ACYP2, 473 more genes
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