A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740420



Internal ID164086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66230542..66236542hg38UCSC Ensembl
chrX:65450384..65456384hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418970
Supporting Variants
Samples
Known GenesHEPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740420
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00147121


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