A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697450



Internal ID21723771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48090052..48090052hg38UCSC Ensembl
chr16:48123963..48123963hg19UCSC Ensembl
Cytoband16q12.1
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 Variantsnssv17198707, nssv17226662
Samples
Known GenesABCC12
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)nsv5697450
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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