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Items: 1 to 20 of 102

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3923176copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352 SUMO3, COL18A1-AS2, 682 more genes
    nsv3905423copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014 SUMO3, MTND5P1, 581 more genes
    nsv3913105copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,162,250-48,056,450 , GRCh38 chr21: 34,789,953-46,636,538 , NCBI36 chr21: 35,084,120-46,880,878 SUMO3, KRTAP10-12, 287 more genes
    nsv3908171copy number variation1nstd102humanPathogenic GRCh37 chr21: 37,914,123-48,097,372 , GRCh38.p12 chr21: 36,541,825-46,677,460 SUMO3, AIRE, 256 more genes
    nsv3908653copy number variation1nstd102humanPathogenic GRCh37 chr21: 38,699,545-48,097,372 , GRCh38.p12 chr21: 37,327,243-46,677,460 SUMO3, MIR6070, 239 more genes
    nsv3918954copy number variation1nstd102humanPathogenic NCBI36 chr21: 37,963,800-46,915,400 , GRCh38 chr21: 37,669,628-46,671,060 , GRCh37 chr21: 39,041,930-48,090,972 SUMO3, LCA5L, 236 more genes
    nsv3923914copy number variation1nstd102humanPathogenic GRCh37 chr21: 40,188,323-48,097,372 , NCBI36 chr21: 39,110,193-46,921,800 , GRCh38 chr21: 38,816,399-46,677,460 SUMO3, RNU6-1149P, 219 more genes
    nsv3904283copy number variation1nstd102humanPathogenic GRCh37 chr21: 41,254,101-48,097,372 , GRCh38.p12 chr21: 39,882,175-46,677,460 SUMO3, C2CD2, 188 more genes
    nsv3914376copy number variation1nstd102humanPathogenic NCBI36 chr21: 40,550,036-46,944,323 , GRCh37.p13 chr21: 41,628,166-48,119,895 , GRCh38.p12 chr21: 40,256,239-46,699,983 SUMO3, PRMT2, 187 more genes
    nsv3911560copy number variation1nstd102humanPathogenic GRCh37 chr21: 41,667,952-48,090,352 , NCBI36 chr21: 40,589,822-46,914,780 , GRCh38 chr21: 40,296,025-46,670,440 SUMO3, LOC102723380, 186 more genes
    nsv3896855copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,335,622-48,097,372 , GRCh38.p12 chr21: 40,963,696-46,677,460 SUMO3, ZBTB21, 181 more genes
    nsv3908049copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,410,406-48,097,372 , GRCh38.p12 chr21: 41,038,480-46,677,460 SUMO3, TRPM2, 181 more genes
    nsv3910187copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,657,128-48,090,317 , GRCh38 chr21: 41,285,201-46,670,405 , NCBI36 chr21: 41,578,998-46,914,745 SUMO3, COL18A1, 177 more genes
    nsv6315496copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460 SUMO3, TMEM97P1, 177 more genes
    nsv4360463copy number variation1nstd102humanPathogenic GRCh37 chr21: 41,537,095-46,914,745 , GRCh38.p12 chr21: 40,165,168-45,494,831 SUMO3, RRP1, 159 more genes
    nsv3912745copy number variation1nstd102humanPathogenic NCBI36 chr21: 42,026,869-46,915,400 , GRCh38 chr21: 41,733,640-46,671,060 , GRCh37 chr21: 43,153,800-48,090,972 SUMO3, KRTAP10-13P, 165 more genes
    nsv6311066copy number variation4nstd102humanPathogenic, Uncertain significance GRCh37 chr21: 43,160,998-47,865,240 , GRCh38.p12 chr21: 41,740,838-46,445,327 SUMO3, TSPEAR-AS2, 159 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 SUMO3, LOC101928369, 157 more genes
    nsv3904100copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,498,966-48,097,372 , GRCh38.p12 chr21: 42,078,857-46,677,460 SUMO3, KRTAP10-10, 156 more genes
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