A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741979



Internal ID165645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111193371..111193531hg38UCSC Ensembl
chrX:110436599..110436759hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415047
Supporting Variants
Samples
Known GenesPAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741979
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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