A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677387



Internal ID21703708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92117417..92117417hg38UCSC Ensembl
chr1:92582974..92582974hg19UCSC Ensembl
Cytoband1p22.1
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 Variantsnssv17175662
Samples
Known GenesBTBD8
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)nsv5677387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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