A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708104



Internal ID21734425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37033968..37033968hg38UCSC Ensembl
chr13:37608105..37608105hg19UCSC Ensembl
Cytoband13q13.3
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 Variantsnssv17193480, nssv17226965
Samples
Known GenesSUPT20H
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)nsv5708104
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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