A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013264



Internal ID76516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78129577..78129628hg38UCSC Ensembl
chr8:79041812..79041863hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535331
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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