A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017933



Internal ID18760466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32137743hg38UCSC Ensembl
Innerchr5:32107084..32137849hg19UCSC Ensembl
Innerchr5:32142841..32173606hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3830766
hg1930766
hg1830766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5623n100
Supporting Variantsnssv3745883, nssv3636833
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)nsv1017933
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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