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Items: 1 to 20 of 49

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 CLDN14, 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 CLDN14, MTND5P1, 581 more genes
    nsv3917693copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825 CLDN14, DPRXP5, 448 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 CLDN14, 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 CLDN14, AIRE, 256 more genes
    nsv3891817copy number variation1nstd102humanPathogenic NCBI36 chr21: 34,449,822-43,171,589 , GRCh37 chr21: 35,527,952-44,298,520 , GRCh38.p12 chr21: 34,155,652-42,878,410 CLDN14, LOC107985513, 168 more genes
    nsv3924469copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,916,169-41,365,265 , NCBI36 chr21: 35,838,039-40,287,135 , GRCh38 chr21: 35,543,872-39,993,338 CLDN14, LOC105372802, 96 more genes
    nsv1398000copy number variation1nstd102humanPathogenic GRCh37 chr21: 37,839,410-41,427,526 , GRCh38.p12 chr21: 36,467,112-40,055,599 CLDN14, MYL6P2, 70 more genes
    nsv3911039copy number variation1nstd102humanPathogenic NCBI36 chr21: 36,066,345-38,852,303 , GRCh38 chr21: 35,772,177-38,558,509 , GRCh37 chr21: 37,144,475-39,930,433 CLDN14, CLDN14-AS1, 58 more genes
    nsv3914461copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,698,247 , GRCh37 chr21: 14,577,835-48,118,159 , NCBI36 chr21: 13,499,706-46,942,587 CLDN14, LINC00945, 686 more genes
    nsv3916732copy number variation4nstd102humanUncertain significance, Pathogenic GRCh38 chr21: 7,749,532-46,677,460 , GRCh37 chr21: 15,006,458-48,097,372 , NCBI36 chr21: 13,928,329-46,921,800 CLDN14, MIR6724-4, 685 more genes
    nsv3917878copy number variation4nstd102humanPathogenic NCBI36 chr21: 14,372,903-46,915,400 , GRCh38 chr21: 7,749,532-46,671,060 , GRCh37 chr21: 15,451,032-48,090,972 CLDN14, POLR2CP1, 685 more genes
    nsv3921828copy number variation2nstd102humanPathogenic NCBI36 chr21: 14,435,115-46,914,780 , GRCh38 chr21: 7,749,532-46,670,440 , GRCh37 chr21: 15,513,244-48,090,352 CLDN14, U2AF1, 685 more genes
    nsv3921603copy number variation4nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,670,405 , GRCh37 chr21: 15,499,847-48,090,317 , NCBI36 chr21: 14,421,718-46,914,745 CLDN14, KRTAP12-3, 685 more genes
    nsv3915086copy number variation2nstd102humanPathogenic NCBI36 chr21: 13,499,765-46,914,686 , GRCh37 chr21: 14,577,894-48,090,258 , GRCh38 chr21: 7,749,532-46,670,346 CLDN14, LINC01668, 685 more genes
    nsv3914890copy number variation1nstd102humanPathogenic NCBI36 chr21: 14,406,909-46,908,590 , GRCh38 chr21: 7,749,532-46,664,250 , GRCh37 chr21: 15,485,038-48,084,162 CLDN14, DONSON, 685 more genes
    nsv3915463copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,499,847-48,081,052 , GRCh38 chr21: 7,749,532-46,661,140 , NCBI36 chr21: 14,421,718-46,905,480 CLDN14, LOC105372745, 685 more genes
    nsv3922048copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,499,847-48,080,911 , GRCh38 chr21: 7,749,532-46,660,999 , NCBI36 chr21: 14,421,718-46,905,339 CLDN14, LINC01548, 685 more genes
    nsv3911879copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,653,090 , GRCh37 chr21: 14,539,679-48,073,002 , NCBI36 chr21: 13,461,550-46,897,430 CLDN14, LINC00158, 685 more genes
    nsv3913513copy number variation1nstd102humanPathogenic NCBI36 chr21: 14,406,909-46,897,424 , GRCh38 chr21: 7,749,532-46,653,084 , GRCh37 chr21: 15,485,038-48,072,996 CLDN14, RPL23P2, 685 more genes
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