A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242247



Internal ID21689756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37752436..37752436hg38UCSC Ensembl
chr20:36380838..36380838hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726701
Supporting Variants
Samples
Known GenesCTNNBL1
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)nssv17242247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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