A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014606



Internal ID77405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96777911..96779169hg38UCSC Ensembl
chr8:97790139..97791397hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479267
Supporting Variants
Samples
Known GenesCPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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