A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014607



Internal ID77406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96780509..96780560hg38UCSC Ensembl
chr8:97792737..97792788hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559393
Supporting Variants
Samples
Known GenesCPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014607
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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