A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041453



Internal ID18783984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24367378..24438885hg38UCSC Ensembl
Innerchr13:24941516..25013023hg19UCSC Ensembl
Innerchr13:23839516..23911023hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3871508
hg1971508
hg1871508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1616n100
Supporting Variantsnssv3523161, nssv3523162
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)nsv1041453
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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