A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007590



Internal ID22069221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10816908..10826324hg38UCSC Ensembl
Outerchr2:10814066..10829438hg38UCSC Ensembl
Innerchr2:10957034..10966450hg19UCSC Ensembl
Outerchr2:10954192..10969564hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3815373
hg1915373
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155159
Supporting Variants
Samples
Known GenesPDIA6
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007590
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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