A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740547



Internal ID164213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68665928..68666020hg38UCSC Ensembl
chrX:67885770..67885862hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430520
Supporting Variants
Samples
Known GenesSTARD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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