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Items: 1 to 20 of 31280

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137741copy number variation1nstd102humanBenign GRCh38 chr13: 48,459,928-48,459,979 , GRCh37 chr13: 49,034,064-49,034,115 RB1
    nsv6137727copy number variation2nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, CRIP1P1, 1 more genes
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6130414insertion1nstd186human GRCh37 chr19: 15,286,113-15,286,146 , GRCh38.p12 chr19: 15,175,302-15,175,335 NOTCH3
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6130243insertion1nstd186human GRCh37 chr12: 102,799,045-102,799,080 , GRCh38.p12 chr12: 102,405,267-102,405,302 IGF1, LINC02456
    nsv6130011insertion1nstd186human GRCh37 chr19: 15,284,547-15,284,555 , GRCh38.p12 chr19: 15,173,736-15,173,744 NOTCH3
    nsv6129984insertion1nstd186human GRCh37 chr14: 105,628,830-105,628,862 , GRCh38.p12 chr14: 105,162,493-105,162,525 JAG2
    nsv6129919insertion1nstd186human GRCh37 chr13: 49,034,021-49,034,021 , GRCh38.p12 chr13: 48,459,885-48,459,885 RB1
    nsv6129779mobile element insertion1nstd186human GRCh37 chr20: 46,218,683-46,218,734 , GRCh38.p12 chr20: 47,589,939-47,589,990 NCOA3
    nsv6129462insertion1nstd186human GRCh37 chr14: 24,794,428-24,794,428 , GRCh38.p12 chr14: 24,325,222-24,325,222 , GRCh38.p12 chr14|NW_018654722.1: 626,200-626,200 ADCY4
    nsv6128417copy number variation1nstd186human GRCh37 chr19: 422,845-423,587 , GRCh38.p12 chr19: 422,845-423,587 SHC2
    nsv6126721insertion1nstd186human GRCh37 chr4: 87,060,138-87,060,152 , GRCh38.p12 chr4: 86,138,985-86,138,999 MAPK10, MAPK10-AS1
    nsv6126662copy number variation1nstd186human GRCh37 chr19: 434,133-434,700 , GRCh38.p12 chr19: 434,133-434,700 SHC2
    nsv6125462copy number variation1nstd186human GRCh37 chr19: 49,460,137-49,460,779 , GRCh38.p12 chr19: 48,956,880-48,957,522 BAX
    nsv6125240copy number variation1nstd186human GRCh37 chr18: 60,885,724-60,886,060 , GRCh38.p12 chr18: 63,218,491-63,218,827 BCL2
    nsv6124828insertion1nstd186human GRCh37 chr8: 141,960,170-141,960,193 , GRCh38.p12 chr8: 140,950,071-140,950,094 PTK2
    nsv6124825insertion1nstd186human GRCh37 chr5: 7,704,113-7,704,113 , GRCh38.p12 chr5: 7,704,000-7,704,000 ADCY2
    nsv6121126copy number variation1nstd186human GRCh37 chr14: 105,628,396-105,628,992 , GRCh38.p12 chr14: 105,162,059-105,162,655 JAG2
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