A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013667



Internal ID76789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65511370..65511421hg38UCSC Ensembl
chr8:66423605..66423656hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556843
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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