A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202252



Internal ID21649761
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 StatusS
Merged Variantsnsv5717678
Supporting Variants
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)nssv17202252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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