A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702909



Internal ID21729230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9764078..9764078hg38UCSC Ensembl
chr18:9764075..9764075hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220082, nssv17200796
Samples
Known GenesRAB31
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)nsv5702909
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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