A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740437



Internal ID164103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66548026..66714200hg38UCSC Ensembl
chrX:65767868..65934042hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38166175
hg19166175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426844
Supporting Variants
Samples
Known GenesEDA2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0012487


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer