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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5867776copy number variation1nstd209human GRCh38 chr1: 27,368,320-27,368,510 , GRCh37.p13 chr1: 27,694,811-27,695,001 MAP3K6, FCN3
    nsv5829937copy number variation1nstd209human GRCh38 chr1: 27,370,372-27,375,605 , GRCh37.p13 chr1: 27,696,863-27,702,096 FCN3
    nsv5429547copy number variation1nstd206human GRCh38 chr1: 27,306,072-28,001,379 , GRCh37.p13 chr1: 27,632,563-28,327,890 SMPDL3B, SCARNA1, 28 more genes
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5414787copy number variation1nstd206human GRCh38 chr1: 27,370,335-27,376,901 , GRCh37.p13 chr1: 27,696,826-27,703,393 FCN3
    nsv5209067copy number variation1nstd204human GRCh38.p13 chr1: 27,087,001-28,123,900 , GRCh37.p13 chr1: 27,413,492-28,450,411 LOC729973, IFI6, 38 more genes
    nsv4903249copy number variation1nstd200human GRCh38 chr1: 27,190,619-27,432,274 , GRCh37.p13 chr1: 27,517,110-27,758,783 WDTC1, WASF2, 12 more genes
    nsv4895550copy number variation1nstd200human GRCh38 chr1: 27,371,955-27,377,147 , GRCh37.p13 chr1: 27,698,446-27,703,639 FCN3
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4049352copy number variation1nstd166human GRCh37.p13 chr1: 27,689,671-27,694,808 , GRCh38.p12 chr1: 27,363,180-27,368,317 FCN3, MAP3K6
    nsv4034694copy number variation1nstd166human GRCh37.p13 chr1: 27,696,775-27,703,393 , GRCh38.p12 chr1: 27,370,284-27,376,901 FCN3
    nsv3907483copy number variation1nstd102humanPathogenic GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233 ATP5IF1, LOC102723760, 138 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3898321copy number variation1nstd102humanUncertain significance GRCh38 chr1: 26,854,636-27,645,829 , NCBI36 chr1: 27,053,714-27,844,927 , GRCh37 chr1: 27,181,127-27,972,340 NR0B2, TRNP1, 31 more genes
    nsv3896439copy number variation1nstd102humanPathogenic GRCh38 chr1: 26,807,012-27,685,191 , NCBI36 chr1: 27,006,090-27,884,289 , GRCh37 chr1: 27,133,503-28,011,702 IFI6, FGR, 37 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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