A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247428



Internal ID21694937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99760271..99760271hg38UCSC Ensembl
chr13:100412525..100412525hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727921
Supporting Variants
Samples
Known GenesCLYBL
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)nssv17247428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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