A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735985



Internal ID159651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:390306..636067hg38UCSC Ensembl
chrX:351041..596802hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38245762
hg19245762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425038
Supporting Variants
Samples
Known GenesSHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00062461


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