A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057083



Internal ID18799614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12916780..13207539hg38UCSC Ensembl
Innerchr18:12916779..13207538hg19UCSC Ensembl
Innerchr18:12906779..13197538hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38290760
hg19290760
hg18290760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725293
Samples
Known GenesCEP192, SEH1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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