A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014597



Internal ID77399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96709439..96709490hg38UCSC Ensembl
chr8:97721667..97721718hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412319
Supporting Variants
Samples
Known GenesCPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005151


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