A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991243



Internal ID61561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166952885..166972100hg38UCSC Ensembl
chr6:167366373..167385588hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3819216
hg1919216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470221
Supporting Variants
Samples
Known GenesRNASET2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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