A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711075



Internal ID21737396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65240598..65240598hg38UCSC Ensembl
chr12:65634378..65634378hg19UCSC Ensembl
Cytoband12q14.3
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 Variantsnssv17218518, nssv17192901
Samples
Known GenesLEMD3
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)nsv5711075
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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