A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696473



Internal ID21722794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7878633..7878633hg38UCSC Ensembl
chr19:7943518..7943518hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202031
Samples
Known GenesLOC388499
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)nsv5696473
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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