A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022658



Internal ID18765192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32101062..32177730hg38UCSC Ensembl
Innerchr5:32101168..32177836hg19UCSC Ensembl
Innerchr5:32136925..32213593hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876669
hg1976669
hg1876669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5622n100
Supporting Variantsnssv3636788
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)nsv1022658
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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