A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011640



Internal ID75418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53755691..53756055hg38UCSC Ensembl
chr8:54668251..54668615hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477802
Supporting Variants
Samples
Known GenesATP6V1H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011640
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002654


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