A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049555



Internal ID18792086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24448016..24465528hg38UCSC Ensembl
Innerchr13:25022154..25039666hg19UCSC Ensembl
Innerchr13:23920154..23937666hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3817513
hg1917513
hg1817513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1617n100
Supporting Variantsnssv3523175, nssv3523177, nssv3523176
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)nsv1049555
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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