A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730652



Internal ID21756973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117496242..117496242hg38UCSC Ensembl
chr6:117817405..117817405hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251868, nssv17242160
Samples
Known GenesDCBLD1
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)nsv5730652
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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