A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432686



Internal ID211423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40599816..40600542hg38UCSC Ensembl
chrX:40459068..40459794hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736517
Samples
Known GenesATP6AP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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