A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209052



Internal ID21656561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120300283..120300283hg38UCSC Ensembl
chr2:121057859..121057859hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686309
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)nssv17209052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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