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Items: 1 to 20 of 161

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096121copy number variation1nstd102humanUncertain significance GRCh37 chr2: 201,943,606-201,950,338 , GRCh38.p12 chr2: 201,078,883-201,085,615 NDUFB3, RNU6-1206P
    nsv7056673inversion1nstd229human GRCh38 chr2: 200,789,164-201,081,461 , GRCh37.p13 chr2: 201,653,887-201,946,184 ORC2, CLK1, 17 more genes
    nsv7049459inversion1nstd229human GRCh38 chr2: 199,624,566-202,238,851 , GRCh37.p13 chr2: 200,489,289-203,103,574 LOC105373833, NDUFB3, 76 more genes
    nsv6697182copy number variation1nstd229human GRCh38 chr2: 192,562,889-202,434,958 , GRCh37.p13 chr2: 193,427,615-203,299,681 RNU6-915P, SLC44A3P1, 150 more genes
    nsv6696612copy number variation1nstd229human GRCh38 chr2: 201,067,901-201,120,900 , GRCh37.p13 chr2: 201,932,624-201,985,623 RNU6-1206P, RPL17P10, 4 more genes
    nsv6691505copy number variation1nstd229human GRCh38 chr2: 201,081,601-201,084,700 , GRCh37.p13 chr2: 201,946,324-201,949,423 NDUFB3
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6539688inversion1nstd223human GRCh38 chr2: 201,073,593-201,074,115 , GRCh37.p13 chr2: 201,938,316-201,938,838 NDUFB3
    nsv6537758inversion1nstd223human GRCh38 chr2: 201,083,485-201,083,884 , GRCh37.p13 chr2: 201,948,208-201,948,607 NDUFB3
    nsv6337623copy number variation1nstd223human GRCh38 chr2: 201,080,701-201,082,000 , GRCh37.p13 chr2: 201,945,424-201,946,723 NDUFB3
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315388copy number variation1nstd102humanUncertain significance GRCh37 chr2: 201,838,259-202,711,243 , GRCh38.p12 chr2: 200,973,536-201,846,520 MTND4LP13, SCYL2P1, 36 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 RN7SKP200, PIMREGP1, 179 more genes
    nsv6311365copy number variation5nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 201,943,606-204,824,322 , GRCh38.p12 chr2: 201,078,883-203,959,599 MTND4LP17, SNORD11, 87 more genes
    nsv6134530copy number variation1nstd213human GRCh37 chr2: 201,780,000-202,780,001 , GRCh38.p12 chr2: 200,915,277-201,915,278 CASP8, CASP10, 37 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5079892mobile element insertion1nstd203human GRCh38 chr2: 201,082,373-201,082,408 , GRCh37.p13 chr2: 201,947,096-201,947,131 NDUFB3
    nsv5076483mobile element insertion1nstd203human GRCh38 chr2: 201,082,408-201,082,408 , GRCh37.p13 chr2: 201,947,131-201,947,131 NDUFB3
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