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 28

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311579copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,040,255-44,041,748 , GRCh38.p12 chr2: 43,813,116-43,814,609 ABCG5, DYNC2LI1
    nsv4769270copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,047,115-44,053,813 , GRCh38 chr2: 43,819,976-43,826,674 ABCG5, DYNC2LI1
    nsv7096160copy number variation1nstd102humanUncertain significance GRCh37 chr2: 44,047,034-44,047,259 , GRCh38.p12 chr2: 43,819,895-43,820,120 ABCG5, DYNC2LI1
    nsv4674416copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,041,487-44,060,795 , GRCh38.p12 chr2: 43,814,348-43,833,656 ABCG5, DYNC2LI1, 1 more genes
    nsv3881425copy number variation1nstd102humanBenign GRCh37 chr2: 44,065,338-44,079,721 , GRCh38.p12 chr2: 43,838,199-43,852,582 ABCG5, LOC102725159, 1 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 ABCG5, CYP1B1-AS1, 1649 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 ABCG5, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 ABCG5, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 ABCG5, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 ABCG5, MTND2P22, 3724 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 ABCG5, SLC35F6, 801 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ABCG5, ALLC, 674 more genes
    nsv3875055copy number variation1nstd102humanPathogenic GRCh37 chr2: 27,861,707-60,790,985 , GRCh38.p12 chr2: 27,638,840-60,563,850 ABCG5, RPL7P13, 426 more genes
    nsv3879320copy number variation1nstd102humanPathogenic GRCh37 chr2: 22,665,048-52,850,368 , GRCh38.p12 chr2: 22,442,176-52,623,230 ABCG5, ATL2, 465 more genes
    nsv3882842copy number variation1nstd102humanPathogenic GRCh37 chr2: 34,792,916-56,676,541 , GRCh38.p12 chr2: 34,567,849-56,449,406 ABCG5, STON1, 303 more genes
    nsv3905626copy number variation1nstd102humanPathogenic GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460 ABCG5, RNU6-433P, 220 more genes
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ABCG5, ASS1P2, 151 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ABCG5, ACTG2, 1713 more genes
    nsv3887131copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 43,386,188-45,013,725 , GRCh38.p12 chr2: 43,159,049-44,786,586 ABCG5, ZFP36L2, 22 more genes
    nsv4728243copy number variation1nstd102humanLikely benign GRCh37 chr2: 44,058,332-44,323,064 , GRCh38.p12 chr2: 43,831,193-44,095,925 ABCG5, LRPPRC, 4 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Support Center