A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689044



Internal ID21715365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201984857..201984857hg38UCSC Ensembl
chr1:201953985..201953985hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188376, nssv17207000
Samples
Known GenesRNPEP
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)nsv5689044
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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