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Items: 1 to 20 of 129

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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
    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
    nsv6692106copy number variation1nstd229human GRCh38 chr2: 202,096,601-202,470,300 , GRCh37.p13 chr2: 202,961,324-203,335,023 PSMA2P3, RPL39P14, 14 more genes
    nsv6689611copy number variation1nstd229human GRCh38 chr2: 202,227,101-202,232,885 , GRCh37.p13 chr2: 203,091,824-203,097,608 RPL39P14, SUMO1
    nsv6684261copy number variation1nstd229human GRCh38 chr2: 202,119,001-202,277,500 , GRCh37.p13 chr2: 202,983,724-203,142,223 DAZAP2P1, LOC100287425, 7 more genes
    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
    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
    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
    nsv6311476copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,566,574-203,424,669 , GRCh38.p12 chr2: 201,701,851-202,559,946 UBE2V1P11, SUMO1, 21 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
    nsv6148613copy number variation1nstd214human GRCh38 chr2: 202,230,641-202,230,791 , GRCh37.p13 chr2: 203,095,364-203,095,514 SUMO1, RPL39P14
    nsv6134647copy number variation1nstd213human GRCh37 chr2: 202,980,000-203,130,001 , GRCh38.p12 chr2: 202,115,277-202,265,278 SUMO1, NOP58, 6 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
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 KIAA2012-AS1, SNORD11, 113 more genes
    nsv4674491copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,772,963-205,218,660 , GRCh38.p12 chr2: 201,908,240-204,353,937 LOC100287425, WDR12, 55 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4674188copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 202,999,402-203,485,750 , GRCh38.p12 chr2: 202,134,679-202,621,027 BMPR2, SUMO1, 22 more genes
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