A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511909



Internal ID288477
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 StatusM
Merged Variants
Supporting Variantsnssv17701997
Samples
Known GenesEPB42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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