A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012009



Internal ID75675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69999352..70051284hg38UCSC Ensembl
chr8:70911587..70963519hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3851933
hg1951933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483115
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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