A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17025953



Internal ID85036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77307879..77307930hg38UCSC Ensembl
chr9:79922795..79922846hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408026
Supporting Variants
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17025953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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