A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714292



Internal ID21740613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75675573..75675573hg38UCSC Ensembl
chr15:75967914..75967914hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197869, nssv17230419
Samples
Known GenesCSPG4
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)nsv5714292
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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