A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682828



Internal ID21709149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64148270..64148270hg38UCSC Ensembl
chr1:64613953..64613953hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17217804, nssv17204627
Samples
Known GenesROR1
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)nsv5682828
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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