A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576447



Internal ID16017170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9240415..9357788hg38UCSC Ensembl
Innerchr18:9240413..9357786hg19UCSC Ensembl
Innerchr18:9230413..9347786hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38117374
hg19117374
hg18117374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878058
Samples
Known GenesANKRD12, TWSG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576447
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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