A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017497



Internal ID79314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119246028..119246068hg38UCSC Ensembl
chr8:120258268..120258308hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548765
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009054


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