A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251779



Internal ID21699288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52107152..52107152hg38UCSC Ensembl
chr13:52681288..52681288hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726051
Supporting Variants
Samples
Known GenesNEK5
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)nssv17251779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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