A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246583



Internal ID21694092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43295415..43295415hg38UCSC Ensembl
chr13:43869551..43869551hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728348
Supporting Variants
Samples
Known GenesENOX1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17246583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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