A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677198



Internal ID21703519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42637981..42637981hg38UCSC Ensembl
chr6:42605719..42605719hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180528
Samples
Known GenesUBR2
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)nsv5677198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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