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 80

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4449877copy number variation1nstd102humanPathogenic GRCh37 chr1: 5,979,667-6,007,969 , GRCh38.p12 chr1: 5,919,607-5,947,909 NPHP4
    nsv6310971copy number variation1nstd102humanPathogenic GRCh37 chr1: 5,933,292-5,940,319 , GRCh38.p12 chr1: 5,873,232-5,880,259 NPHP4
    nsv7095537copy number variation1nstd102humanPathogenic GRCh37 chr1: 5,964,657-5,969,293 , GRCh38.p12 chr1: 5,904,597-5,909,233 NPHP4
    nsv7095998copy number variation1nstd102humanPathogenic GRCh37 chr1: 5,950,908-5,951,108 , GRCh38.p12 chr1: 5,890,848-5,891,048 NPHP4
    nsv6310972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 5,964,816-6,017,448 , GRCh38.p12 chr1: 5,904,756-5,957,388 NPHP4
    nsv4681883copy number variation1nstd102humanUncertain significance GRCh37 chr1: 6,038,330-6,038,473 , GRCh38.p12 chr1: 5,978,270-5,978,413 NPHP4
    nsv6311025copy number variation1nstd102humanUncertain significance GRCh37 chr1: 5,923,325-6,046,349 , GRCh38.p12 chr1: 5,863,265-5,986,289 NPHP4
    nsv6310884copy number variation1nstd102humanUncertain significance GRCh37 chr1: 5,923,325-6,022,029 , GRCh38.p12 chr1: 5,863,265-5,961,969 NPHP4
    nsv3877413copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 5,910,699-6,038,368 , GRCh38.p12 chr1: 5,850,639-5,978,308 NPHP4, MIR4689
    nsv3885552copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 6,051,187-6,158,763 , GRCh38.p12 chr1: 5,991,127-6,098,703 NPHP4, KCNAB2
    nsv3909012copy number variation1nstd102humanLikely benign NCBI36 chr1: 5,536,753-5,952,473 , GRCh37 chr1: 5,614,166-6,029,886 , GRCh38 chr1: 5,554,106-5,969,826 NPHP4, MIR4689
    nsv3886059copy number variation1nstd102humanUncertain significance GRCh37 chr1: 5,962,543-6,062,001 , GRCh38.p12 chr1: 5,902,483-6,001,941 NPHP4, KCNAB2
    nsv6310885copy number variation1nstd102humanUncertain significance GRCh37 chr1: 6,046,195-6,101,952 , GRCh38.p12 chr1: 5,986,135-6,041,892 NPHP4, KCNAB2
    nsv3912360copy number variation1nstd102humanUncertain significance NCBI36 chr1: 5,390,875-5,858,566 , GRCh37.p13 chr1: 5,468,288-5,935,979 , GRCh38.p12 chr1: 5,408,228-5,875,919 NPHP4, LOC105376686, 2 more genes
    nsv4451385copy number variation1nstd102humanUncertain significance GRCh37 chr1: 5,884,375-6,102,915 , GRCh38.p12 chr1: 5,824,315-6,042,855 NPHP4, MIR4689, 1 more genes
    nsv3923716copy number variation1nstd102humanUncertain significance NCBI36 chr1: 5,809,839-6,016,181 , GRCh37.p13 chr1: 5,887,252-6,093,594 , GRCh38.p12 chr1: 5,827,192-6,033,534 NPHP4, KCNAB2, 1 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 NPHP4, RPL9P11, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 NPHP4, 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 NPHP4, MFFP1, 364 more genes
    nsv3873030copy number variation1nstd102humanPathogenic GRCh37 chr1: 746,608-15,077,159 , GRCh38.p12 chr1: 811,228-14,750,663 NPHP4, RN7SL451P, 376 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