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Items: 1 to 20 of 33

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4578367copy number variation1nstd102humanUncertain significance GRCh37 chr1: 176,983,927-176,993,868 , GRCh38.p12 chr1: 177,014,791-177,024,732 ASTN1
    nsv6636979copy number variation1nstd102humanUncertain significance GRCh37 chr1: 176,821,896-176,964,273 , GRCh38.p12 chr1: 176,852,760-176,995,137 ASTN1
    nsv6290615copy number variation1nstd102humanUncertain significance GRCh37 chr1: 176,821,896-176,964,175 , GRCh38.p12 chr1: 176,852,760-176,995,039 ASTN1
    nsv4674287copy number variation1nstd102humanUncertain significance GRCh37 chr1: 176,782,672-176,887,800 , GRCh38.p12 chr1: 176,813,536-176,918,664 ASTN1, PAPPA2
    nsv3883520copy number variation1nstd102humanUncertain significance GRCh37 chr1: 177,044,080-177,295,587 , GRCh38.p12 chr1: 177,074,944-177,326,451 ASTN1, BRINP2, 1 more genes
    nsv3878987copy number variation1nstd102humanUncertain significance GRCh37 chr1: 177,046,326-177,275,885 , GRCh38.p12 chr1: 177,077,190-177,306,749 ASTN1, LOC105371625, 1 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 ASTN1, CRB1, 1608 more genes
    nsv3874431copy number variation1nstd102humanPathogenic GRCh37 chr1: 171,990,029-195,086,758 , GRCh38.p12 chr1: 172,020,889-195,117,628 ASTN1, PTGS2, 307 more genes
    nsv3873192copy number variation1nstd102humanPathogenic GRCh37 chr1: 161,676,893-184,071,723 , GRCh38.p12 chr1: 161,707,103-184,102,589 ASTN1, COLGALT2, 402 more genes
    nsv3904393copy number variation1nstd102humanPathogenic GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162 ASTN1, RPL18P2, 302 more genes
    nsv3896481copy number variation1nstd102humanPathogenic GRCh38 chr1: 176,595,962-196,301,688 , GRCh37 chr1: 176,565,098-196,270,818 , NCBI36 chr1: 174,831,721-194,537,441 ASTN1, RN7SL230P, 231 more genes
    nsv3901149copy number variation1nstd102humanPathogenic NCBI36 chr1: 168,271,833-185,790,903 , GRCh37 chr1: 170,005,209-187,524,280 , GRCh38 chr1: 170,036,068-187,555,148 ASTN1, RGSL1, 296 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 ASTN1, FMO4, 403 more genes
    nsv3886667copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,131,908-187,406,532 , GRCh38.p12 chr1: 173,162,769-187,437,400 ASTN1, CRYZL2P, 233 more genes
    nsv3885424copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,873,155-181,823,980 , GRCh38.p12 chr1: 169,904,014-181,854,845 ASTN1, TRUND-NNN7-1, 210 more genes
    nsv3907850copy number variation1nstd102humanPathogenic GRCh38 chr1: 175,035,040-186,042,595 , NCBI36 chr1: 173,270,799-184,278,350 , GRCh37 chr1: 175,004,176-186,011,727 ASTN1, LOC100129573, 172 more genes
    nsv4436225copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,652,343-183,538,289 , GRCh38.p12 chr1: 172,683,203-183,569,154 ASTN1, KIAA1614-AS1, 190 more genes
    nsv3887418copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,742,952-181,814,496 , GRCh38.p12 chr1: 172,773,812-181,845,361 ASTN1, ZBTB37, 152 more genes
    nsv3896314copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,187,474-178,044,969 , NCBI36 chr1: 167,454,098-176,311,592 , GRCh38 chr1: 169,218,236-178,075,834 ASTN1, RPS26P12, 150 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 ASTN1, MARK1, 4930 more genes
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