A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702099



Internal ID21728420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10511612..10511612hg38UCSC Ensembl
chr12:10664211..10664211hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191986, nssv17232388
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)nsv5702099
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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