A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546279



Internal ID15987002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627627..54628202hg38UCSC Ensembl
Innerchr1:55093300..55093875hg19UCSC Ensembl
Innerchr1:54865888..54866463hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38576
hg19576
hg18576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv280n54
Supporting Variantsnssv713448
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546279
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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