A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156376



Internal ID22086777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112374478..112396563hg38UCSC Ensembl
Outerchr5:112371725..112397880hg38UCSC Ensembl
Innerchr5:111710175..111732260hg19UCSC Ensembl
Outerchr5:111707422..111733577hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3826156
hg1926156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4018990
Samples
Known GenesEPB41L4A
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156376
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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