A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247732



Internal ID21695241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72692707..72692707hg38UCSC Ensembl
chr15:72985048..72985048hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717424
Supporting Variants
Samples
Known GenesBBS4
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)nssv17247732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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