A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546954



Internal ID16334363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103617093hg38UCSC Ensembl
Innerchr1:104105635..104159715hg19UCSC Ensembl
Innerchr1:103907158..103961238hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854081
hg1954081
hg1854081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv393n54
Supporting Variantsnssv719731, nssv719732, nssv719734, nssv719730, nssv719733, nssv719729
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546954
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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