A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17219325



Internal ID21666834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29460815..29460815hg38UCSC Ensembl
chr6:29428592..29428592hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688225
Supporting Variants
Samples
Known GenesOR2H1
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)nssv17219325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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