A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979099



Internal ID53444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18466302..18466379hg38UCSC Ensembl
chr6:18466533..18466610hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141013
Supporting Variants
Samples
Known GenesRNF144B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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