A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695498



Internal ID21721819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95809170..95809170hg38UCSC Ensembl
chr13:96461424..96461424hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194632, nssv17217324
Samples
Known GenesUGGT2
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)nsv5695498
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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