A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029185



Internal ID18771717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32152975hg38UCSC Ensembl
Innerchr5:32107084..32153081hg19UCSC Ensembl
Innerchr5:32142841..32188838hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3845998
hg1945998
hg1845998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n100
Supporting Variantsnssv3636843, nssv3636846, nssv3636835, nssv3636838, nssv3636839, nssv3636849, nssv3636847, nssv3636845, nssv3636848, nssv3636834, nssv3636840, nssv3636844, nssv3745885, nssv3636836, nssv3745886, nssv3636842, nssv3636837, nssv3636841
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)nsv1029185
Frequency
Sample Size29084
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer