A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681737



Internal ID21708058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196216664..196216664hg38UCSC Ensembl
chr2:197081388..197081388hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213657
Samples
Known GenesHECW2
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)nsv5681737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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