A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687684



Internal ID21714005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60884537..60884537hg38UCSC Ensembl
chr5:60180364..60180364hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175490, nssv17212168
Samples
Known GenesERCC8
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)nsv5687684
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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