A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048542



Internal ID18791073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73242046..73276659hg38UCSC Ensembl
Innerchr14:73708754..73743367hg19UCSC Ensembl
Innerchr14:72778507..72813120hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3834614
hg1934614
hg1834614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1933n100
Supporting Variantsnssv3531140, nssv3531141
Samples
Known GenesNUMB, PAPLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048542
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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