A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594805



Internal ID16382214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88555851..88646616hg38UCSC Ensembl
Innerchr4:89477002..89567767hg19UCSC Ensembl
Innerchr4:89696025..89786790hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3890766
hg1990766
hg1890766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153470
SamplesHGDP00614
Known GenesHERC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594805
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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