A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739253



Internal ID162919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11426634..11426776hg38UCSC Ensembl
chrX:11444754..11444896hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427534
Supporting Variants
Samples
Known GenesARHGAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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