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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6696314copy number variation1nstd229human GRCh38 chr2: 182,861,651-182,862,739 , GRCh37.p13 chr2: 183,726,379-183,727,467 FRZB
    nsv6692453copy number variation1nstd229human GRCh38 chr2: 182,859,379-182,887,147 , GRCh37.p13 chr2: 183,724,107-183,751,875 FRZB, RNU6-1122P
    nsv6691728copy number variation1nstd229human GRCh38 chr2: 182,833,450-182,834,015 , GRCh37.p13 chr2: 183,698,177-183,698,742 FRZB
    nsv6691127copy number variation1nstd229human GRCh38 chr2: 182,730,019-183,183,033 , GRCh37.p13 chr2: 183,594,746-184,047,761 DNAJC10, RPL31P15, 6 more genes
    nsv6686789copy number variation1nstd229human GRCh38 chr2: 182,853,537-182,856,399 , GRCh37.p13 chr2: 183,718,265-183,721,127 FRZB
    nsv6681037copy number variation1nstd229human GRCh38 chr2: 182,818,505-182,838,738 , GRCh37.p13 chr2: 183,683,232-183,703,466 FRZB
    nsv6636434copy number variation1nstd102humanUncertain significance GRCh37 chr2: 183,206,179-184,174,590 , GRCh38.p12 chr2: 182,341,452-183,309,862 DNAJC10, LIN28AP1, 9 more genes
    nsv6636283copy number variation1nstd102humanUncertain significance GRCh37 chr2: 183,070,475-186,717,885 , GRCh38.p12 chr2: 182,205,748-185,853,158 LOC101929976, LOC105373781, 28 more genes
    nsv6548079inversion1nstd223human GRCh38 chr2: 178,157,654-187,669,944 , GRCh37.p13 chr2: 179,022,381-188,534,671 RNU7-104P, RN7SKP42, 90 more genes
    nsv6354530copy number variation1nstd223human GRCh38 chr2: 182,844,301-182,845,000 , GRCh37.p13 chr2: 183,709,029-183,709,728 FRZB
    nsv6350247copy number variation1nstd223human GRCh38 chr2: 182,853,701-182,856,400 , GRCh37.p13 chr2: 183,718,429-183,721,128 FRZB
    nsv6347569copy number variation1nstd223human GRCh38 chr2: 182,831,813-182,840,397 , GRCh37.p13 chr2: 183,696,540-183,705,125 FRZB
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6296973copy number variation1nstd186human GRCh37 chr2: 183,718,269-183,721,131 , GRCh38.p12 chr2: 182,853,541-182,856,403 FRZB
    nsv6139609copy number variation1nstd206human GRCh38 chr2: 182,126,646-183,269,093 , GRCh37.p13 chr2: 182,991,373-184,133,821 , RN7SL267P, 12 more genes
    nsv5986801copy number variation1nstd212human GRCh38 chr2: 182,843,606-182,849,047 , GRCh37.p13 chr2: 183,708,334-183,713,775 FRZB
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5449811copy number variation1nstd206human GRCh38 chr2: 182,843,606-182,849,047 , GRCh37.p13 chr2: 183,708,334-183,713,775 FRZB
    nsv5444713copy number variation1nstd206human GRCh38 chr2: 182,835,186-182,835,298 , GRCh37.p13 chr2: 183,699,913-183,700,025 FRZB
    nsv5442639copy number variation1nstd206human GRCh38 chr2: 182,666,956-182,983,751 , GRCh37.p13 chr2: 183,531,683-183,848,479 FRZB, NCKAP1, 4 more genes
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