A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736882



Internal ID160548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48936921..48936975hg38UCSC Ensembl
chrX:48794192..48794246hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433306
Supporting Variants
Samples
Known GenesOTUD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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