A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726146



Internal ID21752467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53838139..53838139hg38UCSC Ensembl
chr8:54750699..54750699hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250380, nssv17252365
Samples
Known GenesATP6V1H
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)nsv5726146
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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