A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739850



Internal ID163516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31452243..31452280hg38UCSC Ensembl
chrX:31470360..31470397hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547232
Supporting Variants
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.184515


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