A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711623



Internal ID21737944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56383831..56383831hg38UCSC Ensembl
chr8:57296390..57296390hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183532, nssv17223696
Samples
Known GenesSDR16C6P
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)nsv5711623
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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