A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17738016



Internal ID161682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152176551..152176553hg38UCSC Ensembl
chrX:151345023..151345025hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560465
Supporting Variants
Samples
Known GenesGABRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17738016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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