A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736442



Internal ID160108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38292341..38292452hg38UCSC Ensembl
chrX:38151594..38151705hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427987
Supporting Variants
Samples
Known GenesRPGR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736442
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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