A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594640



Internal ID16382049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622642..69681535hg38UCSC Ensembl
Innerchr4:70488360..70547253hg19UCSC Ensembl
Innerchr4:70522949..70581842hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3858894
hg1958894
hg1858894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152930
SamplesHGDP00134
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594640
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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