A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231064



Internal ID21678573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57169220..57169220hg38UCSC Ensembl
chr16:57203132..57203132hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706453
Supporting Variants
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)nssv17231064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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