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Items: 1 to 20 of 27

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 POU3F3, DAZAP2P1, 2991 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 POU3F3, CYP1B1-AS1, 1649 more genes
    nsv3900303copy number variation1nstd102humanPathogenic GRCh38 chr2: 101,234,070-105,679,157 , NCBI36 chr2: 101,216,964-105,662,046 , GRCh37 chr2: 101,850,532-106,295,614 POU3F3, CNOT11, 68 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 POU3F3, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 POU3F3, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 POU3F3, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 POU3F3, MTND2P22, 3724 more genes
    nsv3876227copy number variation1nstd102humanPathogenic GRCh37 chr2: 96,353,030-114,045,463 , GRCh38.p12 chr2: 95,687,282-113,287,886 POU3F3, RNU4-8P, 346 more genes
    nsv3902899copy number variation1nstd102humanPathogenic NCBI36 chr2: 94,707,984-111,076,455 , GRCh38 chr2: 94,678,532-110,602,409 , GRCh37 chr2: 95,344,257-111,359,986 POU3F3, MTCO3P45, 325 more genes
    nsv3877583copy number variation1nstd102humanPathogenic GRCh37 chr2: 95,529,039-108,518,266 , GRCh38.p12 chr2: 94,863,294-107,901,810 POU3F3, RPL27AP4, 242 more genes
    nsv3907326copy number variation1nstd102humanPathogenic GRCh38 chr2: 97,672,522-110,211,318 , GRCh37 chr2: 98,288,985-110,968,895 , NCBI36 chr2: 97,655,417-110,326,184 POU3F3, RPL22P11, 212 more genes
    nsv3894687copy number variation1nstd102humanPathogenic GRCh37 chr2: 102,327,287-111,548,995 , GRCh38 chr2: 101,710,825-110,791,418 , NCBI36 chr2: 101,693,719-111,265,466 POU3F3, NCK2, 162 more genes
    nsv3906499copy number variation1nstd102humanPathogenic NCBI36 chr2: 100,361,404-108,455,759 , GRCh37 chr2: 100,994,972-109,089,327 , GRCh38 chr2: 100,378,510-108,472,871 POU3F3, LOC105373511, 132 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 POU3F3, ACTG2, 1713 more genes
    nsv3895979copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 102,067,167-106,068,791 , GRCh37 chr2: 102,700,735-106,702,359 , GRCh38 chr2: 102,084,275-106,085,903 POU3F3, FHL2, 55 more genes
    nsv3896706copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 104,364,612-107,295,347 , GRCh37 chr2: 104,998,180-107,928,915 , GRCh38 chr2: 104,381,722-107,312,459 POU3F3, CD8B2, 49 more genes
    nsv3878033copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 104,995,799-106,679,055 , GRCh38.p12 chr2: 104,379,341-106,062,599 POU3F3, FHL2, 32 more genes
    nsv3901575copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 104,629,532-105,046,994 , GRCh37 chr2: 105,263,100-105,680,562 , GRCh38 chr2: 104,646,642-105,064,104 POU3F3, MRPS9, 8 more genes
    nsv3899945copy number variation1nstd102humanLikely benign NCBI36 chr2: 103,880,772-104,817,226 , GRCh37 chr2: 104,514,340-105,450,794 , GRCh38 chr2: 103,897,882-104,834,336 LOC105373521, LOC105373524, 15 more genes
    nsv3884005copy number variation1nstd102humanLikely benign GRCh37 chr2: 105,239,993-105,899,739 , GRCh38.p12 chr2: 104,623,535-105,283,282 POU3F3, LINC01159, 14 more genes
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