A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715614



Internal ID21741935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16419539..16419539hg38UCSC Ensembl
chr19:16530350..16530350hg19UCSC Ensembl
Cytoband19p13.11
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 Variantsnssv17247972, nssv17242406
Samples
Known GenesEPS15L1
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)nsv5715614
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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