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Items: 1 to 20 of 954

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145563copy number variation1nstd232human GRCh37.p13 chr5: 70,821,384-70,821,432 , GRCh38.p12 chr5: 71,525,557-71,525,605 , GRCh38.p12 chr5|NT_187651.1: 1,055,532-1,055,580 , GRCh38.p12 chr5|NW_003315917.2: 1,524,042-1,524,090 BDP1
    nsv7145070copy number variation1nstd232human GRCh37.p13 chr5: 70,853,481-70,853,547 , GRCh38.p12 chr5: 71,557,654-71,557,720 , GRCh38.p12 chr5|NT_187651.1: 1,087,629-1,087,695 , GRCh38.p12 chr5|NW_003315917.2: 1,556,139-1,556,205 BDP1
    nsv7097542copy number variation1nstd102humanPathogenic GRCh37 chr5: 70,892,087-70,892,211 , GRCh38.p12 chr5|NT_187651.1: 1,126,235-1,126,359 , GRCh38.p12 chr5|NW_003315917.2: 1,594,745-1,594,869 , GRCh38.p12 chr5: 71,596,260-71,596,384 MCCC2
    nsv7097289copy number variation1nstd102humanPathogenic GRCh37 chr5: 70,898,323-70,900,305 , GRCh38.p12 chr5: 71,602,496-71,604,478 , GRCh38.p12 chr5|NT_187651.1: 1,132,471-1,134,453 , GRCh38.p12 chr5|NW_003315917.2: 1,600,981-1,602,963 MCCC2
    nsv7097288copy number variation1nstd102humanPathogenic GRCh37 chr5: 70,895,476-70,900,305 , GRCh38.p12 chr5: 71,599,649-71,604,478 , GRCh38.p12 chr5|NT_187651.1: 1,129,624-1,134,453 , GRCh38.p12 chr5|NW_003315917.2: 1,598,134-1,602,963 MCCC2
    nsv7097287copy number variation1nstd102humanLikely benign GRCh37 chr5: 70,247,758-70,247,828 , GRCh38.p12 chr5: 70,951,931-70,952,001 , GRCh38.p12 chr5|NT_187651.1: 500,363-500,433 , GRCh38.p12 chr5|NW_003315917.2: 458,790-458,860 GUSBP15, SMN1
    nsv7096785copy number variation1nstd102humanUncertain significance GRCh37 chr5: 70,808,992-70,952,687 , GRCh38.p12 chr5: 71,513,165-71,656,860 , GRCh38.p12 chr5|NT_187651.1: 1,043,140-1,144,418 , GRCh38.p12 chr5|NW_003315917.2: 1,511,650-1,612,928 HMGN1P12, BDP1, 1 more genes
    nsv7096784copy number variation1nstd102humanLikely benign GRCh37 chr5: 69,372,338-69,372,408 , GRCh38.p12 chr5: 70,076,511-70,076,581 , GRCh38.p12 chr5|NT_187651.1: 301,852-301,922 SMN2, GUSBP15
    nsv6635913copy number variation8nstd227human GRCh37 chr5: 70,305,696-70,307,386 , GRCh38.p12 chr5: 71,009,869-71,011,559 , GRCh38.p12 chr5|NT_187651.1: 558,251-559,941 , GRCh38.p12 chr5|NW_003315917.2: 399,285-400,975 NAIP, NAIPP1
    nsv6630872copy number variation1nstd224human GRCh37 chr5: 70,755,853-70,858,268 , GRCh38.p12 chr5: 71,460,026-71,562,441 , GRCh38.p12 chr5|NT_187651.1: 990,010-1,092,416 , GRCh38.p12 chr5|NW_003315917.2: 1,458,511-1,560,926 LOC100419852, HMGN1P12, 1 more genes
    nsv6630871copy number variation2nstd224human GRCh37 chr5: 70,307,162-70,749,745 , GRCh38.p12 chr5: 71,011,335-71,453,918 , GRCh38.p12 chr5|NT_187651.1: 559,717-983,902 , GRCh38.p12 chr5|NW_003315917.2: 945,494-1,452,403 GTF2H2, BDP1, 18 more genes
    nsv6314326complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr5: 69,441,340-69,441,340 , GRCh37 chr5: 69,449,059-69,449,059 , GRCh37 chr15: 25,121,931-25,121,931 , GRCh37 chr15: 25,122,267-25,122,267 , GRCh38.p12 chr15: 24,876,784-24,876,784 , GRCh38.p12 chr15: 24,877,120-24,877,120 , GRCh38.p12 chr5: 70,145,513-70,145,513 , GRCh38.p12 chr5: 70,153,232-70,153,232 , GRCh38.p12 chr5|NT_187651.1: 370,870-370,870 , GRCh38.p12 chr5|NT_187651.1: 378,596-378,596 SNRPN, GUSBP14, 2 more genes
    nsv6300105copy number variation1nstd186human GRCh37 chr5: 70,451,634-70,461,634 , GRCh38.p12 chr5|NT_187651.1: 681,476-691,474 , GRCh38.p12 chr5|NW_003315917.2: 1,086,066-1,096,077 , GRCh38.p12 chr5: 71,155,807-71,165,807 0
    nsv6299865copy number variation1nstd186human GRCh37 chr5: 70,621,634-70,627,634 , GRCh38.p12 chr5: 71,325,807-71,331,807 , GRCh38.p12 chr5|NT_187651.1: 855,790-861,789 , GRCh38.p12 chr5|NW_003315917.2: 1,324,311-1,330,310 , LINC02197
    nsv6299225copy number variation1nstd186human GRCh37 chr5: 70,557,634-70,565,634 , GRCh38.p12 chr5|NT_187651.1: 794,348-799,811 , GRCh38.p12 chr5|NW_003315917.2: 1,260,338-1,268,338 , GRCh38.p12 chr5: 71,261,807-71,269,807 LOC105379016
    nsv6299175copy number variation1nstd186human GRCh37 chr5: 69,287,634-69,295,634 , GRCh38.p12 chr5: 69,991,807-69,999,807 , GRCh38.p12 chr5|NT_187651.1: 216,814-224,803 , GUSBP15, 1 more genes
    nsv6295316copy number variation1nstd186human GRCh37 chr5: 69,391,634-69,401,827 , GRCh38.p12 chr5: 70,095,807-70,106,000 , GRCh38.p12 chr5|NT_187651.1: 321,137-331,341 GUSBP15, NAIPP2
    nsv6295256copy number variation1nstd186human GRCh37 chr5: 69,245,634-69,257,730 , GRCh38.p12 chr5: 69,949,807-69,961,903 , GRCh38.p12 chr5|NT_187651.1: 174,824-186,900 GUSBP15
    nsv6295215copy number variation1nstd186human GRCh37 chr5: 70,631,634-70,637,827 , GRCh38.p12 chr5: 71,335,807-71,342,000 , GRCh38.p12 chr5|NT_187651.1: 865,789-871,980 , GRCh38.p12 chr5|NW_003315917.2: 1,334,311-1,340,507 , LINC02197, 1 more genes
    nsv6295078copy number variation1nstd186human GRCh37 chr5: 69,235,634-69,240,852 , GRCh38.p12 chr5: 69,939,807-69,945,025 , GRCh38.p12 chr5|NT_187651.1: 164,804-170,020 GUSBP15
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