A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719385



Internal ID21745706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67579709..67579709hg38UCSC Ensembl
chr2:67806841..67806841hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250376, nssv17251104
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)nsv5719385
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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