A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704563



Internal ID21730884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57157839..57157839hg38UCSC Ensembl
chr16:57191751..57191751hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198814
Samples
Known GenesFAM192A
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)nsv5704563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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