A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739852



Internal ID163518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31511488..31532744hg38UCSC Ensembl
chrX:31529605..31550861hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3821257
hg1921257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422938
Supporting Variants
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626436


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