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 49

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314212copy number variation1nstd102humanUncertain significance GRCh37 chr21: 30,339,313-30,399,972 , GRCh38.p12 chr21: 28,966,991-29,027,651 LTN1, USP16, 3 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 LTN1, 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 LTN1, 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 LTN1, DPRXP5, 448 more genes
    nsv3916181copy number variation1nstd102humanPathogenic GRCh38 chr21: 14,000,720-30,903,065 , GRCh37 chr21: 15,373,041-32,275,384 , NCBI36 chr21: 14,294,912-31,197,255 LTN1, ADAMTS5, 215 more genes
    nsv3920431copy number variation1nstd102humanPathogenic NCBI36 chr21: 13,488,537-29,551,400 , GRCh37 chr21: 14,566,666-30,629,529 , GRCh38 chr21: 13,194,345-29,257,208 LTN1, ZNF114P1, 189 more genes
    nsv3915265copy number variation1nstd102humanPathogenic NCBI36 chr21: 19,717,357-32,135,333 , GRCh37 chr21: 20,795,486-33,213,462 , GRCh38 chr21: 19,423,169-31,841,150 LTN1, TUBAP1, 169 more genes
    nsv3923006copy number variation1nstd102humanPathogenic GRCh38 chr21: 21,730,831-32,385,468 , GRCh37.p13 chr21: 23,103,151-33,757,777 LTN1, KRTAP23-1, 161 more genes
    nsv3897196copy number variation1nstd102humanPathogenic GRCh37 chr21: 29,880,468-36,062,331 , NCBI36 chr21: 28,802,339-34,984,201 , GRCh38.p12 chr21: 28,508,147-34,690,032 LTN1, LOC105369299, 150 more genes
    nsv4676178copy number variation1nstd102humanPathogenic GRCh37 chr21: 27,826,100-32,468,109 , GRCh38.p12 chr21: 26,453,781-31,095,791 LTN1, GRIK1-AS2, 94 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, 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 LTN1, LINC00158, 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