A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1002276



Internal ID15949546
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 StatusS
Merged Variantsnsv594642
Supporting Variants
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)nssv1002276
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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