A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695610



Internal ID21721931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62813931..62813931hg38UCSC Ensembl
chr12:63207711..63207711hg19UCSC Ensembl
Cytoband12q14.2
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 Variantsnssv17192285, nssv17216992
Samples
Known GenesPPM1H
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)nsv5695610
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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