A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248891



Internal ID21306832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42822218..42981459hg38UCSC Ensembl
Outerchr21:42816587..42982534hg38UCSC Ensembl
Innerchr21:44242328..44401569hg19UCSC Ensembl
Outerchr21:44236697..44402644hg19UCSC Ensembl
Innerchr21:43115397..43274638hg18UCSC Ensembl
Outerchr21:43109766..43275713hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38165948
hg19165948
hg18165948
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169841
Supporting Variants
SamplesNGO_30
Known GenesNDUFV3, PKNOX1, WDR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248891
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