A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736517



Internal ID160183
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 StatusS
Merged Variantsnsv5432686
Supporting Variants
Samples
Known GenesATP6AP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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