A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022116



Internal ID18764650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32156878hg38UCSC Ensembl
Innerchr5:32102719..32156984hg19UCSC Ensembl
Innerchr5:32138476..32192741hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3854266
hg1954266
hg1854266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n100
Supporting Variantsnssv3636797, nssv3636796
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)nsv1022116
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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