A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708111



Internal ID21734432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46596165..46596165hg38UCSC Ensembl
chr18:44176128..44176128hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225163, nssv17201158
Samples
Known GenesLOXHD1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708111
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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