A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431485



Internal ID210260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13025843..13560513hg38UCSC Ensembl
chrX:13043962..13578632hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38534671
hg19534671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739306
Samples
Known GenesATXN3L, FAM9C, LOC100093698, LOC100133123
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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