A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546280



Internal ID15987003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627627..54628260hg38UCSC Ensembl
Innerchr1:55093300..55093933hg19UCSC Ensembl
Innerchr1:54865888..54866521hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38634
hg19634
hg18634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv280n54
Supporting Variantsnssv713449
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546280
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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