A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881226



Internal ID22656200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13317904..13319132hg38UCSC Ensembl
chrX:13336023..13337251hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446668
Samples
Known GenesATXN3L, LOC100093698
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881226
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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