A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213657



Internal ID21661166
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 StatusS
Merged Variantsnsv5681737
Supporting Variants
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)nssv17213657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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