A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546296



Internal ID15987019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54628151..54629384hg38UCSC Ensembl
Innerchr1:55093824..55095057hg19UCSC Ensembl
Innerchr1:54866412..54867645hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv282n54
Supporting Variantsnssv713474
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546296
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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