A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677709



Internal ID21704030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64762150..64762150hg38UCSC Ensembl
chr5:64057977..64057977hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177734
Samples
Known GenesSREK1IP1
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)nsv5677709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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