A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730171



Internal ID21756492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111261864..111261864hg38UCSC Ensembl
chrX:110505092..110505092hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205603
Samples
Known GenesCAPN6
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)nsv5730171
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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