A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716609



Internal ID21742930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22738271..22738271hg38UCSC Ensembl
chrX:22756388..22756388hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205237, nssv17228025
Samples
Known GenesLOC100873065
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716609
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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