A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723264



Internal ID21749585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81213627..81213627hg38UCSC Ensembl
chrX:80469126..80469126hg19UCSC Ensembl
CytobandXq21.1
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 Variantsnssv17205533
Samples
Known GenesSH3BGRL
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)nsv5723264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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