A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719142



Internal ID21745463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42341302..42341302hg38UCSC Ensembl
chr13:42915438..42915438hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252458
Samples
Known Genes
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)nsv5719142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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