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 103

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673998copy number variation1nstd102humanPathogenic GRCh37 chr5: 87,776,690-88,119,605 , GRCh38.p12 chr5: 88,480,873-88,823,788 MIR9-2HG, MEF2C, 3 more genes
    nsv3881406copy number variation1nstd102humanUncertain significance GRCh37 chr1: 156,408,917-156,534,664 , GRCh38.p12 chr1: 156,439,125-156,564,872 MIR9-1HG, MEF2D, 1 more genes
    nsv3889848copy number variation1nstd102humanPathogenic GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719 MEGF10, LOC100128407, 2080 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 CRB1, STX6, 1608 more genes
    nsv3916249copy number variation1nstd102humanPathogenic NCBI36 chr15: 21,173,967-100,338,915 , GRCh37.p13 chr15: 23,622,526-102,521,392 , GRCh38.p12 chr15: 23,377,379-101,981,189 H3P40, EEF1B2P1, 1616 more genes
    nsv3919468copy number variation1nstd102humanPathogenic NCBI36 chr15: 26,996,912-100,338,915 , GRCh37.p13 chr15: 29,209,620-102,521,392 , GRCh38.p12 chr15: 28,917,417-101,981,189 RNU6-18P, GOLGA8K, 1442 more genes
    nsv3884357copy number variation2nstd102humanPathogenic GRCh37 chr5: 86,400,000-154,000,000 , GRCh38.p12 chr5: 87,104,183-154,620,440 TXNDC15, PCDHAC1, 962 more genes
    nsv3924896copy number variation1nstd102humanPathogenic GRCh38 chr5: 84,603,580-111,435,081 , GRCh37 chr5: 83,899,398-110,770,779 , NCBI36 chr5: 83,935,154-110,798,678 LOC107986438, GGCTP1, 254 more genes
    nsv4729092copy number variation1nstd102humanPathogenic GRCh37 chr15: 86,962,053-102,531,392 , GRCh38.p12 chr15: 86,418,822-101,981,189 CHD2, MIR11181, 272 more genes
    nsv4675149copy number variation1nstd102humanPathogenic GRCh37 chr15: 87,189,245-102,429,112 , GRCh38.p12 chr15: 86,646,014-101,888,909 TTLL13, LINC00052, 264 more genes
    nsv3921368copy number variation1nstd102humanPathogenic GRCh37 chr5: 86,672,700-100,860,147 , NCBI36 chr5: 86,708,456-100,888,046 , GRCh38 chr5: 87,376,883-101,524,443 LOC107986438, MTCO1P22, 158 more genes
    nsv4350274copy number variation1nstd102humanPathogenic GRCh37 chr15: 83,883,823-92,165,844 , GRCh38.p12 chr15: 83,215,071-91,622,614 AKAP13, LOC105370972, 184 more genes
    nsv6313788copy number variation1nstd102humanPathogenic GRCh37 chr5: 82,185,951-90,110,454 , GRCh38.p12 chr5: 82,890,132-90,814,637 RASA1, HAPLN1, 82 more genes
    nsv3874231copy number variation1nstd102humanPathogenic GRCh37 chr5: 87,512,314-95,096,562 , GRCh38.p12 chr5: 88,216,497-95,760,858 ARRDC3, LOC107986433, 71 more genes
    nsv6290316copy number variation1nstd102humanPathogenic GRCh37 chr15: 88,465,861-94,411,846 , GRCh38.p12 chr15: 87,922,630-93,868,617 LOC105370964, MRPL46, 130 more genes
    nsv3902841copy number variation1nstd102humanPathogenic GRCh37 chr15: 88,295,992-94,215,607 , GRCh38.p12 chr15: 87,752,761-93,672,378 BLM, MIR3175, 129 more genes
    nsv7148188copy number variation1nstd102humanPathogenic GRCh38 chr5: 88,189,536-93,784,597 , GRCh37.p13 chr5: 87,485,353-93,120,303 RPS3AP22, LOC105379078, 49 more genes
    nsv3915072copy number variation1nstd102humanPathogenic GRCh38 chr5: 86,743,723-92,337,264 , GRCh37 chr5: 86,039,540-91,633,081 , NCBI36 chr5: 86,075,296-91,668,837 RAB5CP2, LOC105379066, 54 more genes
    nsv3922083copy number variation1nstd102humanPathogenic GRCh38 chr5: 86,766,959-92,148,845 , GRCh37 chr5: 86,062,776-91,444,662 , NCBI36 chr5: 86,098,532-91,480,418 LOC107986387, RN7SL629P, 52 more genes
    nsv4457339copy number variation1nstd102humanPathogenic GRCh37 chr5: 83,497,559-88,416,354 , GRCh38.p12 chr5: 84,201,741-89,120,537 LINC02144, NBPF22P, 47 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