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Items: 1 to 20 of 302

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4682811copy number variation1nstd102humanPathogenic GRCh37 chr7: 107,542,173-107,546,823 , GRCh38.p12 chr7: 107,901,728-107,906,378 DLD
    nsv6312606copy number variation1nstd102humanPathogenic GRCh37 chr7: 107,556,049-107,558,012 , GRCh38.p12 chr7: 107,915,604-107,917,567 DLD
    nsv3885484copy number variation1nstd102humanBenign GRCh37 chrX: 153,724,351-153,734,787 , GRCh38.p12 chrX: 154,496,001-154,506,456 RN7SL697P, FAM3A
    nsv7097603copy number variation1nstd102humanPathogenic GRCh37 chr7: 107,412,489-107,559,714 , GRCh38.p12 chr7: 107,772,044-107,919,269 DLD, LOC105375444, 3 more genes
    nsv3909696copy number variation1nstd102humanUncertain significance GRCh37 chr16: 75,040,327-75,237,490 , GRCh38.p12 chr16: 75,006,429-75,203,592 RPS4Y1P1, ZFP1, 3 more genes
    nsv3887251copy number variation1nstd102humanUncertain significance GRCh37 chrX: 153,723,127-153,792,604 , GRCh38.p12 chrX: 154,494,781-154,564,389 FAM3A, IKBKG, 2 more genes
    nsv3919826copy number variation1nstd102humanPathogenic GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840 DLD, RNU6-438P, 2682 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 NANOGNBP3, PRXL2CP1, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 NHS-AS1, DUSP21, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 GPR119, RN7SKP81, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 H2AB2, RTL3, 2152 more genes
    nsv3898149copy number variation1nstd102humanPathogenic GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792 OR3B1P, SSX4B, 2154 more genes
    nsv3877395copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174 ARMCX2, RNA5SP505, 2154 more genes
    nsv3884935copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127 NDUFB11, VN1R110P, 2154 more genes
    nsv3903061copy number variation1nstd102humanPathogenic NCBI36 chrX: 679-154,896,026 , GRCh38 chrX: 10,679-156,013,167 , GRCh37 chrX: 60,679-155,242,832 SLC38A5, CT45A1, 2152 more genes
    nsv3885865copy number variation1nstd102humanPathogenic GRCh37 chrX: 70,297-155,246,585 , GRCh38.p12 chrX: 20,297-156,016,920 MIR1277, LOC100420247, 2152 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv3907545copy number variation1nstd102humanPathogenic GRCh37 chrX: 64,245-155,228,958 , NCBI36 chrX: 4,245-154,882,152 , GRCh38 chrX: 14,245-155,999,293 TMEM30BP1, SPANXB1, 2151 more genes
    nsv3884029copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,224,766 , GRCh38.p12 chrX: 21,267-155,995,101 SSX4B, LOC100420083, 2150 more genes
    nsv3898185copy number variation2nstd102humanPathogenic GRCh37 chrX: 76,102-155,226,096 , NCBI36 chrX: 16,102-154,879,290 , GRCh38 chrX: 26,102-155,996,431 ANKRD11P2, RAI2, 2151 more genes
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