A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8654n54



Internal ID20142078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151792469..151877081hg38UCSC Ensembl
chr3:151510257..151594869hg19UCSC Ensembl
chr3:152992947..153077559hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3884613
hg1984613
hg1884613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592063, nsv592064, nsv592048, nsv592051, nsv592062
SamplesNINDS_204, 1780862401_A
Known GenesAADAC, MIR548H2, SUCNR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8654n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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