A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705458



Internal ID21731779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72260878..72260878hg38UCSC Ensembl
chr15:72553219..72553219hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197841
Samples
Known GenesPARP6
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)nsv5705458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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