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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5562145sequence alteration1nstd206human GRCh38 chr4: 74,717,205-184,730,527 , GRCh37.p13 chr4: 75,689,880-185,651,681 , ASS1P8, 1307 more genes
    nsv5381774copy number variation1nstd102humanPathogenic GRCh37 chr4: 116,833,638-130,232,122 , GRCh38.p12 chr4: 115,912,482-129,310,967 LOC112268469, LOC105377393, 159 more genes
    nsv5084604mobile element insertion1nstd203human GRCh38 chr4: 120,059,347-120,059,362 , GRCh37.p13 chr4: 120,980,502-120,980,517 MAD2L1
    nsv4935565copy number variation1nstd200human GRCh38 chr4: 119,999,975-120,072,312 , GRCh37.p13 chr4: 120,921,130-120,993,467 MAD2L1
    nsv4761770inversion1nstd199human GRCh37 chr4: 34,988-191,015,248 , GRCh38.p12 chr4: 34,988-190,094,093 , ADD1, 2433 more genes
    nsv4758212inversion1nstd199human GRCh37 chr4: 30,775-191,019,445 , GRCh38.p12 chr4: 30,775-190,098,290 , ADD1, 2433 more genes
    nsv4754592inversion1nstd199human GRCh37 chr4: 27,111-191,020,337 , GRCh38.p12 chr4: 27,111-190,099,182 , ADD1, 2433 more genes
    nsv4753570inversion1nstd199human GRCh37 chr4: 19,034-191,028,414 , GRCh38.p12 chr4: 19,034-190,107,259 , ADD1, 2434 more genes
    nsv4751554inversion1nstd199human GRCh37 chr4: 18,939-191,034,785 , GRCh38.p12 chr4: 18,939-190,113,630 , ADD1, 2434 more genes
    nsv4472846mobile element insertion1nstd166human GRCh37.p13 chr4: 120,980,502-120,980,502 , GRCh38.p12 chr4: 120,059,347-120,059,347 MAD2L1
    nsv4456291copy number variation1nstd102humanUncertain significance GRCh37 chr4: 120,418,423-120,991,396 , GRCh38.p12 chr4: 119,497,268-120,070,241 MAD2L1, PDE5A, 5 more genes
    nsv4436254copy number variation1nstd102humanLikely pathogenic GRCh37 chr4: 116,624,547-126,168,646 , GRCh38.p12 chr4: 115,703,391-125,247,491 ANXA5, CCNA2, 125 more genes
    nsv4342697sequence alteration1nstd166human GRCh37.p13 chr4: 73,901,505-160,870,682 , GRCh38.p12 chr4: 73,035,788-159,949,530 , ADH1B, 1083 more genes
    nsv4111845copy number variation1nstd166human GRCh37.p13 chr4: 120,899,417-121,767,307 , GRCh38.p12 chr4: 119,978,262-120,846,152 SAR1AP3, RNU6-550P, 3 more genes
    nsv4096992copy number variation1nstd166human GRCh37.p13 chr4: 120,972,138-120,984,464 , GRCh38.p12 chr4: 120,050,983-120,063,309 MAD2L1
    nsv3959269copy number variation1nstd168human GRCh38 chr4: 120,034,621-120,063,801 , GRCh37.p13 chr4: 120,955,776-120,984,956 MAD2L1
    nsv3924008copy number variation1nstd102humanPathogenic GRCh38 chr4: 118,065,569-190,042,639 , GRCh37 chr4: 118,986,724-190,828,225 , NCBI36 chr4: 119,206,172-191,200,788 PPID, METTL14-DT, 828 more genes
    nsv3922957copy number variation1nstd102humanPathogenic GRCh37 chr4: 118,273,037-134,486,822 , GRCh38 chr4: 117,351,881-133,565,667 , NCBI36 chr4: 118,492,485-134,706,272 LOC102724158, LOC105377411, 168 more genes
    nsv3920388copy number variation1nstd102humanPathogenic GRCh37 chr4: 97,014,044-137,331,362 , NCBI36 chr4: 97,233,067-137,550,812 , GRCh38 chr4: 96,092,893-136,410,207 MIR576, ABT1P1, 447 more genes
    nsv3917126copy number variation1nstd102humanPathogenic GRCh38 chr4: 116,630,862-145,429,900 , NCBI36 chr4: 117,771,466-146,570,502 , GRCh37 chr4: 117,552,018-146,351,052 SETD7, HSPD1P5, 294 more genes
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