A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730096



Internal ID21756417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185253594..185253594hg38UCSC Ensembl
chr3:184971382..184971382hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234197
Samples
Known GenesEHHADH
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)nsv5730096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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