A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013367



Internal ID76584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80659476..80659527hg38UCSC Ensembl
chr8:81571711..81571762hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553984
Supporting Variants
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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