A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511613



Internal ID288189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41537973..41541618hg38UCSC Ensembl
chr15:41830171..41833816hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg383646
hg193646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701133
Samples
Known GenesRPAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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