A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422978



Internal ID202005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3677772..4945844hg38UCSC Ensembl
chrX:3595813..4863885hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg381268073
hg191268073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736125
Samples
Known GenesLOC389906, PRKX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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