A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251876



Internal ID21304069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42831915..42993457hg38UCSC Ensembl
Outerchr21:42828507..42997564hg38UCSC Ensembl
Innerchr21:44252025..44413567hg19UCSC Ensembl
Outerchr21:44248617..44417674hg19UCSC Ensembl
Innerchr21:43125094..43286636hg18UCSC Ensembl
Outerchr21:43121686..43290743hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38169058
hg19169058
hg18169058
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169841
Supporting Variants
SamplesNGO_10
Known GenesNDUFV3, PKNOX1, WDR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251876
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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