A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703387



Internal ID21729708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30220726..30220726hg38UCSC Ensembl
chr19:30711633..30711633hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202041, nssv17230046
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703387
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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