A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718699



Internal ID21745020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64220936..64220936hg38UCSC Ensembl
chrX:63440816..63440816hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203344, nssv17218718
Samples
Known Genes
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)nsv5718699
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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