A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17020823



Internal ID81531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19277109..19521054hg38UCSC Ensembl
chr9:19277107..19521052hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38243946
hg19243946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492133
Supporting Variants
Samples
Known GenesACER2, DENND4C, RPS6, SLC24A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17020823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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