A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031398



Internal ID18773932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21989447..23444297hg38UCSC Ensembl
Innerchr5:21989556..23444406hg19UCSC Ensembl
Innerchr5:22025313..23480163hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381454851
hg191454851
hg181454851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745850
Samples
Known GenesCDH12, PMCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031398
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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