A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3604518



Internal ID18556113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119641659..119693428hg38UCSC Ensembl
Innerchr3:119360506..119412275hg19UCSC Ensembl
Innerchr3:120843196..120894965hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3851770
hg1951770
hg1851770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014394
Supporting Variants
Samples
Known GenesCOX17, POPDC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3604518
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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