A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682467



Internal ID21708788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179670499..179670499hg38UCSC Ensembl
chr2:180535226..180535226hg19UCSC Ensembl
Cytoband2q31.2
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 Variantsnssv17230016
Samples
Known GenesZNF385B
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)nsv5682467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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