A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737553



Internal ID161219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129740530..129742880hg38UCSC Ensembl
chrX:128874506..128876856hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg382351
hg192351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429632
Supporting Variants
Samples
Known GenesXPNPEP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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