A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742443



Internal ID166109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134608921..134609096hg38UCSC Ensembl
chrX:133742951..133743126hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430582
Supporting Variants
Samples
Known GenesPLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742443
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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