A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220922



Internal ID21668431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237804607..237804607hg38UCSC Ensembl
chr2:238713250..238713250hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676292
Supporting Variants
Samples
Known GenesRBM44
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)nssv17220922
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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