A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059472



Internal ID18802003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:27276596..28749090hg38UCSC Ensembl
Innerchr18:24856560..26329054hg19UCSC Ensembl
Innerchr18:23110558..24583052hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381472495
hg191472495
hg181472495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725301
Samples
Known GenesCDH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059472
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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