A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209471



Internal ID21656980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223624394..223624394hg38UCSC Ensembl
chr2:224489111..224489111hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678243
Supporting Variants
Samples
Known Genes
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)nssv17209471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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