A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686697



Internal ID21713018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112346137..112346137hg38UCSC Ensembl
chr3:112064984..112064984hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209987, nssv17218058
Samples
Known GenesCD200
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)nsv5686697
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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