A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169474



Internal ID21313957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53319470..53337657hg38UCSC Ensembl
Outerchr6:53318996..53338779hg38UCSC Ensembl
Innerchr6:53184268..53202455hg19UCSC Ensembl
Outerchr6:53183794..53203577hg19UCSC Ensembl
Innerchr6:53292227..53310414hg18UCSC Ensembl
Outerchr6:53291753..53311536hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3819784
hg1919784
hg1819784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241864
SamplesPML_1
Known GenesELOVL5, RPS16P5
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169474
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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