A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682109



Internal ID21708430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23104934..23104934hg38UCSC Ensembl
chr1:23431427..23431427hg19UCSC Ensembl
Cytoband1p36.12
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 Variantsnssv17205703, nssv17185913
Samples
Known GenesLUZP1
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)nsv5682109
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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