A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740421



Internal ID164087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66244917..66279179hg38UCSC Ensembl
chrX:65464759..65499021hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3834263
hg1934263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138182
Supporting Variants
Samples
Known GenesHEPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000832813


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