A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701185



Internal ID21727506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60637097..60637097hg38UCSC Ensembl
chr15:60929296..60929296hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227387, nssv17197085
Samples
Known GenesRORA
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)nsv5701185
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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