A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059378



Internal ID18801909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46851869..46929089hg38UCSC Ensembl
Innerchr18:44431832..44509052hg19UCSC Ensembl
Innerchr18:42685830..42763050hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3877221
hg1977221
hg1877221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565385
Samples
Known GenesPIAS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059378
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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