A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701997



Internal ID125663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43200420..43200506hg38UCSC Ensembl
chr15:43492618..43492704hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511909
Supporting Variants
Samples
Known GenesEPB42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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