U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 1 to 20 of 59

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4457751copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,611,891-37,653,828 , GRCh38.p12 chr21: 36,239,593-36,281,530 DOP1B
    nsv3896862copy number variation1nstd102humanBenign/Likely benign GRCh37 chr21: 37,507,345-37,578,365 , GRCh38.p12 chr21: 36,135,047-36,206,067 DOP1B, CBR3, 2 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, KRTAP10-12, 287 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 DOP1B, 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 DOP1B, LOC105372802, 96 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, 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 DOP1B, RPL23P2, 685 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center