A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697931



Internal ID21724252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482043..21482043hg38UCSC Ensembl
chr12:21634977..21634977hg19UCSC Ensembl
Cytoband12p12.1
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 Variantsnssv17192675, nssv17217855
Samples
Known GenesRECQL
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)nsv5697931
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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