A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739620



Internal ID163286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22228549..22228637hg38UCSC Ensembl
chrX:22246666..22246754hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138517
Supporting Variants
Samples
Known GenesPHEX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006897


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