A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249513



Internal ID21697022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72244871..72244871hg38UCSC Ensembl
chr15:72537212..72537212hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729361
Supporting Variants
Samples
Known GenesPARP6
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17249513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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