A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695070



Internal ID21721391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65645727..65645727hg38UCSC Ensembl
chr12:66039507..66039507hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192909
Samples
Known Genes
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)nsv5695070
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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