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 35

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314380complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr8: 141,981,143-141,981,143 , GRCh38.p12 chr8: 141,981,144-141,981,144 , GRCh37 chr8: 143,062,504-143,062,504 , GRCh37 chr8: 143,062,505-143,062,505 , GRCh38.p12 chr2: 202,217,411-202,217,411 , GRCh38.p12 chr2: 202,217,420-202,217,420 , GRCh37 chr2: 203,082,134-203,082,134 , GRCh37 chr2: 203,082,143-203,082,143 SUMO1
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 SUMO1, DAZAP2P1, 2991 more genes
    nsv3894939copy number variation1nstd102humanPathogenic NCBI36 chr2: 175,471,822-204,514,516 , GRCh37 chr2: 175,763,576-204,806,271 , GRCh38 chr2: 174,898,848-203,941,548 SUMO1, TRE-TTC9-1, 412 more genes
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 SUMO1, LOC107985785, 381 more genes
    nsv3896612copy number variation1nstd102humanPathogenic GRCh38 chr2: 192,938,826-215,705,052 , NCBI36 chr2: 193,511,797-216,278,020 , GRCh37 chr2: 193,803,552-216,569,775 SUMO1, MTND4P30, 320 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 SUMO1, LOC100421409, 310 more genes
    nsv3903696copy number variation1nstd102humanPathogenic NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924 SUMO1, MTND4P23, 206 more genes
    nsv3895332copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,811,217-210,849,919 , GRCh38 chr2: 199,946,494-209,985,195 , NCBI36 chr2: 200,519,462-210,558,164 SUMO1, CCNYL1, 203 more genes
    nsv3908231copy number variation1nstd102humanPathogenic NCBI36 chr2: 196,233,563-204,542,456 , GRCh38 chr2: 195,660,594-203,969,488 , GRCh37 chr2: 196,525,318-204,834,211 SUMO1, LINC01877, 170 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 SUMO1, RN7SKP200, 179 more genes
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 SUMO1, KIAA2012-AS1, 113 more genes
    nsv3897866copy number variation1nstd102humanPathogenic GRCh38 chr2: 198,767,347-202,353,840 , GRCh37 chr2: 199,632,071-203,218,563 , NCBI36 chr2: 199,340,316-202,926,808 SUMO1, RPS2P16, 88 more genes
    nsv6311365copy number variation5nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 201,943,606-204,824,322 , GRCh38.p12 chr2: 201,078,883-203,959,599 SUMO1, MTND4LP17, 87 more genes
    nsv4674491copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,772,963-205,218,660 , GRCh38.p12 chr2: 201,908,240-204,353,937 SUMO1, LOC100287425, 55 more genes
    nsv6311476copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,566,574-203,424,669 , GRCh38.p12 chr2: 201,701,851-202,559,946 SUMO1, UBE2V1P11, 21 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 SUMO1, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 SUMO1, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 SUMO1, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 SUMO1, MTND2P22, 3724 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 SUMO1, LOC105376755, 1013 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Support Center