A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726176



Internal ID21752497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88214278..88214278hg38UCSC Ensembl
chr3:88263428..88263428hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249616
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)nsv5726176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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