A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246781



Internal ID21312857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42822218..42978907hg38UCSC Ensembl
Outerchr21:42816587..42981303hg38UCSC Ensembl
Innerchr21:44242328..44399017hg19UCSC Ensembl
Outerchr21:44236697..44401413hg19UCSC Ensembl
Innerchr21:43115397..43272086hg18UCSC Ensembl
Outerchr21:43109766..43274482hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38164717
hg19164717
hg18164717
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169841
Supporting Variants
SamplesSNI_5
Known GenesNDUFV3, PKNOX1, WDR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246781
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer