A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050215



Internal ID18792746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24367378..24455157hg38UCSC Ensembl
Innerchr13:24941516..25029295hg19UCSC Ensembl
Innerchr13:23839516..23927295hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3887780
hg1987780
hg1887780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1616n100
Supporting Variantsnssv3523163
Samples
Known GenesPARP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050215
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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