A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4016193



Internal ID22077824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230550298..230564505hg38UCSC Ensembl
Outerchr2:230549670..230573632hg38UCSC Ensembl
Innerchr2:231415013..231429220hg19UCSC Ensembl
Outerchr2:231414385..231438347hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3823963
hg1923963
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155924
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4016193
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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