A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576524



Internal ID16017247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12918319..13183610hg38UCSC Ensembl
Innerchr18:12918318..13183609hg19UCSC Ensembl
Innerchr18:12908318..13173609hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38265292
hg19265292
hg18265292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878409
Samples
Known GenesCEP192, SEH1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576524
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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