A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730970



Internal ID21757291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136190197..136190197hg38UCSC Ensembl
chr8:137202440..137202440hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244975
Samples
Known Genes
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)nsv5730970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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