A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702044



Internal ID21728365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:16709869..16709869hg38UCSC Ensembl
chr9:16709867..16709867hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186360, nssv17226345
Samples
Known GenesBNC2
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)nsv5702044
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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