A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012965



Internal ID76317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70442157..70442165hg38UCSC Ensembl
chr8:71354392..71354400hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542355
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012965
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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