A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546160



Internal ID15986883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45757414..45950676hg38UCSC Ensembl
Innerchr1:46223086..46416348hg19UCSC Ensembl
Innerchr1:45995673..46188935hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38193263
hg19193263
hg18193263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv257n54
Supporting Variantsnssv1173843
SamplesHGDP01189
Known GenesMAST2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546160
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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