A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155514



Internal ID22086019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49471356..49476982hg38UCSC Ensembl
Outerchr18:49468535..49483097hg38UCSC Ensembl
Innerchr18:46997726..47003352hg19UCSC Ensembl
Outerchr18:46994905..47009467hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3814563
hg1914563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4011954
Samples
Known GenesC18orf32, RPL17-C18orf32
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155514
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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