A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700357



Internal ID124023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:23328874..23431455hg38UCSC Ensembl
chr15:23574022..23676602hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38102582
hg19102581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497115
Supporting Variants
Samples
Known GenesGOLGA8S, LOC440243
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003905


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