A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019454



Internal ID80608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:10000..18000hg38UCSC Ensembl
chr9:10001..18000hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg388001
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142027
Supporting Variants
Samples
Known GenesDDX11L5, WASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019454
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.74708


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