A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710443



Internal ID21736764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044600..105044600hg38UCSC Ensembl
chr12:105438378..105438378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219205, nssv17193647
Samples
Known GenesALDH1L2
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)nsv5710443
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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