A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721683



Internal ID21748004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21847586..21847586hg38UCSC Ensembl
chrX:21865704..21865704hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205231, nssv17224791
Samples
Known GenesMBTPS2
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)nsv5721683
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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