A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028009



Internal ID18770540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32094548..32158337hg38UCSC Ensembl
Innerchr5:32094654..32158443hg19UCSC Ensembl
Innerchr5:32130411..32194200hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3863790
hg1963790
hg1863790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5620n100
Supporting Variantsnssv3636771
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028009
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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