A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712956



Internal ID21739277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106497183..106497183hg38UCSC Ensembl
chr12:106890961..106890961hg19UCSC Ensembl
Cytoband12q23.3
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 Variantsnssv17232732, nssv17193673
Samples
Known GenesLOC100287944, POLR3B
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)nsv5712956
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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