A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17197927



Internal ID21645436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20694475..20694475hg38UCSC Ensembl
chr2:20894235..20894235hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676242
Supporting Variants
Samples
Known GenesC2orf43
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)nssv17197927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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