A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193386



Internal ID21640895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112906937..112906937hg38UCSC Ensembl
chr12:113344742..113344742hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707171
Supporting Variants
Samples
Known GenesOAS1
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)nssv17193386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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