A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982469



Internal ID55671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29460815..29460866hg38UCSC Ensembl
chr6:29428592..29428643hg19UCSC 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 Variantsnsv5402666
Supporting Variants
Samples
Known GenesOR2H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007805


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