A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017349



Internal ID18759884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32152975hg38UCSC Ensembl
Innerchr5:32102719..32153081hg19UCSC Ensembl
Innerchr5:32138476..32188838hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3850363
hg1950363
hg1850363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n100
Supporting Variantsnssv3636795, nssv3636793, nssv3636790, nssv3636792, nssv3636791, nssv3636789, nssv3636794
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)nsv1017349
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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