A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730780



Internal ID154446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9577422..9577435hg38UCSC Ensembl
chr20:9558069..9558082hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544324
Supporting Variants
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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