A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694002



Internal ID21720323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78193771..78193771hg38UCSC Ensembl
chr5:77489595..77489595hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213082
Samples
Known GenesAP3B1
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)nsv5694002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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