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 30

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310739copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,316,166-17,332,293 , GRCh38.p12 chr1: 16,989,671-17,005,798 ATP13A2
    nsv4716548copy number variation1nstd102humanPathogenic GRCh38 chr1: 16,991,222-16,993,187 , GRCh37 chr1: 17,317,717-17,319,682 ATP13A2
    nsv6310919copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,330,807-17,332,293 , GRCh38.p12 chr1: 17,004,312-17,005,798 ATP13A2
    nsv4453687copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,318,209-17,319,096 , GRCh38 chr1: 16,991,714-16,992,601 ATP13A2
    nsv7095562copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,312,716-17,338,233 , GRCh38.p12 chr1: 16,986,221-17,011,738 ATP13A2
    nsv7095712copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,316,166-17,338,233 , GRCh38.p12 chr1: 16,989,671-17,011,738 ATP13A2
    nsv3886313copy number variation1nstd102humanBenign GRCh37 chr1: 17,325,955-17,389,580 , GRCh38.p12 chr1: 16,999,460-17,063,085 ATP13A2, SDHB
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 ATP13A2, RPL9P11, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 ATP13A2, LOC107985467, 386 more genes
    nsv3900501copy number variation1nstd102humanPathogenic GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016 ATP13A2, MFFP1, 364 more genes
    nsv3900236copy number variation1nstd102humanPathogenic GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383 ATP13A2, PDPN, 333 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 ATP13A2, GPR157, 313 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 ATP13A2, PADI1, 176 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 ATP13A2, EMC1-AS1, 166 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 ATP13A2, RNU1-6P, 150 more genes
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 ATP13A2, NBL1, 98 more genes
    nsv3898082copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,008,307-19,988,832 , NCBI36 chr1: 15,880,894-19,861,419 , GRCh38 chr1: 15,681,812-19,662,339 ATP13A2, ESPNP, 114 more genes
    nsv6290472copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,773,001-20,221,073 , GRCh38.p12 chr1: 16,446,506-19,894,580 ATP13A2, MIR1290, 92 more genes
    nsv6290458copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,531-17,770,100 , GRCh38.p12 chr1|NW_011332688.1: 1-288,827 , GRCh38.p12 chr1: 16,958,036-17,443,604 ATP13A2, PADI2, 12 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 ATP13A2, MARK1, 4930 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Filters: Manage Filters

    Find related data

    Search details

    See more...

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)
    Support Center