A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720394



Internal ID21746715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49336573..49336573hg38UCSC Ensembl
chr19:49839830..49839830hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242414
Samples
Known GenesCD37
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)nsv5720394
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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