A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729405



Internal ID21755726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17900164..17900164hg38UCSC Ensembl
chr19:18010973..18010973hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243748
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)nsv5729405
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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