A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705622



Internal ID21731943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8116994..8116994hg38UCSC Ensembl
chr12:8269590..8269590hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191944
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)nsv5705622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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