A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683966



Internal ID21710287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93717373..93717373hg38UCSC Ensembl
chr1:94182929..94182929hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174951, nssv17204687
Samples
Known GenesBCAR3
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)nsv5683966
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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