A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717678



Internal ID21743999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14693062..14693062hg38UCSC Ensembl
chrX:14711184..14711184hg19UCSC Ensembl
CytobandXp22.2
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 Variantsnssv17202252
Samples
Known GenesGLRA2
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)nsv5717678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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