A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715358



Internal ID21741679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112651492..112651492hg38UCSC Ensembl
chr13:113305806..113305806hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245018
Samples
Known GenesC13orf35
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)nsv5715358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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