A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028668



Internal ID86813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125192352..125201998hg38UCSC Ensembl
chr9:127954631..127964277hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg389647
hg199647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475861
Supporting Variants
Samples
Known GenesRABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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