A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594642



Internal ID16035365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70007322..70090425hg38UCSC Ensembl
Innerchr4:70873039..70956142hg19UCSC Ensembl
Innerchr4:70907628..70990731hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3883104
hg1983104
hg1883104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002276
Samples
Known GenesCSN1S2AP, HTN1, HTN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594642
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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