A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546159



Internal ID15986882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45757414..45932743hg38UCSC Ensembl
Innerchr1:46223086..46398415hg19UCSC Ensembl
Innerchr1:45995673..46171002hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38175330
hg19175330
hg18175330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv257n54
Supporting Variantsnssv712897
Samples
Known GenesMAST2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546159
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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