A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676519



Internal ID21702840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78212728..78212728hg38UCSC Ensembl
chr5:77508552..77508552hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178063
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)nsv5676519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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