A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716262



Internal ID21742583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129867717..129867717hg38UCSC Ensembl
chr7:129507557..129507557hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240740
Samples
Known GenesUBE2H
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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