A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426844



Internal ID205760
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 StatusM
Merged Variants
Supporting Variantsnssv17740437
Samples
Known GenesEDA2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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