A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709322



Internal ID21735643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37227197..37227197hg38UCSC Ensembl
chr21:38599498..38599498hg19UCSC Ensembl
Cytoband21q22.13
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 Variantsnssv17204400, nssv17214502
Samples
Known GenesDSCR3
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)nsv5709322
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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