A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712187



Internal ID21738508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118636010..118636010hg38UCSC Ensembl
chr12:119073815..119073815hg19UCSC Ensembl
Cytoband12q24.23
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 Variantsnssv17193992
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)nsv5712187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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