U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 18

    loading data ...

    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3918295copy number variation1nstd102humanPathogenic GRCh38 chr20: 54,594,888-58,190,583 , NCBI36 chr20: 52,644,834-56,199,045 , GRCh37 chr20: 53,211,427-56,765,639 MC3R, MTRNR2L3, 59 more genes
    nsv3892750copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941 MC3R, TGIF2-RAB5IF, 1314 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 MC3R, LRRN4, 1313 more genes
    nsv3895314copy number variation2nstd102humanPathogenic GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202 MC3R, PKIG, 1311 more genes
    nsv3896520copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110 MC3R, COMMD7, 1311 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MC3R, MIR3646, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 MC3R, FTLP1, 472 more genes
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 MC3R, LINC01742, 253 more genes
    nsv3911673copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,773,088-62,908,674 , NCBI36 chr20: 54,206,495-62,379,118 , GRCh38 chr20: 56,198,032-64,277,321 MC3R, LOC105372709, 226 more genes
    nsv4357849copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,143,747-62,194,881 , GRCh38.p12 chr20: 55,568,689-63,563,528 MC3R, RBM38, 192 more genes
    nsv3894116copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 51,542,616-62,915,555 , GRCh38.p12 chr20: 52,926,077-64,284,202 MC3R, ATP5F1E, 254 more genes
    nsv3910223copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 51,286,111-62,385,999 , GRCh37 chr20: 51,852,704-62,915,555 , GRCh38 chr20: 53,236,165-64,284,202 MC3R, ATP5F1E, 253 more genes
    nsv3912982copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 53,639,062-58,949,658 , GRCh37 chr20: 54,220,678-59,516,263 , GRCh38 chr20: 55,630,597-60,941,207 MC3R, ATP5F1E, 103 more genes
    nsv6311086copy number variation1nstd102humanUncertain significance GRCh37 chr20: 54,823,900-57,899,514 , GRCh38.p12 chr20: 56,248,844-59,324,459 MC3R, CTSZ, 75 more genes
    nsv3910818copy number variation1nstd102humanUncertain significance NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167 MC3R, RNA5SP481, 855 more genes
    nsv7148186copy number variation1nstd102humanUncertain significance GRCh37 chr20: 52,773,668-62,965,020 , GRCh38.p12 chr20: 54,157,129-64,333,667 MC3R, LOC105372717, 245 more genes
    nsv6637604copy number variation1nstd102humanUncertain significance GRCh37 chr20: 52,517,925-55,402,822 , GRCh38.p12 chr20: 53,901,386-56,827,766 MC3R, DOK5, 34 more genes
    nsv3901084copy number variation1nstd102humanUncertain significance GRCh37 chr20: 54,541,125-55,162,415 , GRCh38.p12 chr20: 55,966,069-56,587,359 MC3R, FAM209B, 13 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