A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546451



Internal ID16333860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:69429166..69509977hg38UCSC Ensembl
Innerchr1:69894849..69975660hg19UCSC Ensembl
Innerchr1:69667437..69748248hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3880812
hg1980812
hg1880812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716147
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546451
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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