A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1486n54



Internal ID22769381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133389090..133621189hg38UCSC Ensembl
chr10:135202594..135434693hg19UCSC Ensembl
chr10:135052584..135284683hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38232100
hg19232100
hg18232100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552651, nsv552702, nsv552690, nsv552703, nsv552701, nsv552657, nsv552656, nsv552645, nsv552684, nsv552655
SamplesHGDP00904, HGDP00812, 1780854495_A, 1780854117_A, 1780854260_A, 1780854574_A
Known GenesCYP2E1, MTG1, PAOX, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1486n54
Frequency
Sample Size17421
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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