A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701873



Internal ID21728194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360978..47360978hg38UCSC Ensembl
chr12:47754761..47754761hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217185, nssv17190885
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)nsv5701873
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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