A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8956n54



Internal ID20142380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8269524..8270256hg38UCSC Ensembl
chr4:8271251..8271983hg19UCSC Ensembl
chr4:8322151..8322883hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38733
hg19733
hg18733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593629, nsv593632, nsv593631
Samples
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8956n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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