A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739481



Internal ID163147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18120480..18120536hg38UCSC Ensembl
chrX:18138600..18138656hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421911
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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