A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729478



Internal ID21755799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36126419..36126419hg38UCSC Ensembl
chr19:36617321..36617321hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243356, nssv17243504
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)nsv5729478
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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