A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700358



Internal ID124024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:23328874..23627000hg38UCSC Ensembl
chr15:23574022..23872147hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38298127
hg19298126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505092
Supporting Variants
Samples
Known GenesGOLGA8S, LOC440243, MIR4508, MKRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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