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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5435705copy number variation1nstd206human GRCh38 chr2: 208,138,945-208,139,245 , GRCh37.p13 chr2: 209,003,669-209,003,969 CRYGC, LOC100507443
    nsv4804578copy number variation1nstd200human GRCh37 chr2: 208,812,243-209,185,063 , GRCh38.p12 chr2: 207,947,519-208,320,339 CRYGA, RNA5SP116, 18 more genes
    nsv4753481insertion1nstd199human GRCh37 chr2: 208,993,444-208,993,444 , GRCh38.p12 chr2: 208,128,720-208,128,720 , GRCh38.p12 chr2|NW_018654710.1: 127,014-127,014 CRYGC, LOC100507443
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728545copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063 FASTKD2, MYL6BP1, 110 more genes
    nsv4674585copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,965,516-209,396,109 , GRCh38.p12 chr2: 208,100,792-208,531,384 IDH1, LOC100507443, 16 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4582824copy number variation1nstd183human GRCh37 chr2: 208,859,603-209,241,108 , GRCh38.p12 chr2: 207,994,879-208,376,383 RNA5SP116, PTH2R, 20 more genes
    nsv4545275insertion1nstd166human GRCh37.p13 chr2: 208,999,441-208,999,441 , GRCh38.p12 chr2: 208,134,717-208,134,717 , GRCh38.p12 chr2|NW_018654710.1: 133,011-133,011 CRYGC, LOC100507443, 1 more genes
    nsv4453337copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,965,515-209,383,510 , GRCh38.p12 chr2: 208,100,791-208,518,785 CRYGC, RPSAP27, 16 more genes
    nsv4451411copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,956,981-209,383,510 , GRCh38.p12 chr2: 208,092,257-208,518,785 TPT1P2, MYL6BP1, 16 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4080144copy number variation1nstd166human GRCh37.p13 chr2: 209,004,000-209,009,000 , GRCh38.p12 chr2: 208,139,276-208,144,276 , GRCh38.p12 chr2|NW_018654710.1: 137,570-140,361 CRYGC, LOC100507443, 1 more genes
    nsv3966038copy number variation1nstd168human GRCh38 chr2: 208,061,248-208,196,031 , GRCh37.p13 chr2: 208,925,972-209,060,755 CRYGA, CRYGB, 7 more genes
    nsv3958036insertion1nstd168human GRCh38 chr2: 208,069,980-208,210,567 , GRCh37.p13 chr2: 208,934,704-209,075,291 CRYGEP, C2orf80, 8 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
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