A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044923



Internal ID18787454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73242046..73280022hg38UCSC Ensembl
Innerchr14:73708754..73746730hg19UCSC Ensembl
Innerchr14:72778507..72816483hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3837977
hg1937977
hg1837977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1933n100
Supporting Variantsnssv3531143
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)nsv1044923
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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