A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739895



Internal ID163561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32412570..32412621hg38UCSC Ensembl
chrX:32430687..32430738hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554324
Supporting Variants
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739895
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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