A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17197085



Internal ID21644594
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 StatusS
Merged Variantsnsv5701185
Supporting Variants
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)nssv17197085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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