A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546281



Internal ID15987004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627627..54628315hg38UCSC Ensembl
Innerchr1:55093300..55093988hg19UCSC Ensembl
Innerchr1:54865888..54866576hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38689
hg19689
hg18689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv280n54
Supporting Variantsnssv713451, nssv713452, nssv713450
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546281
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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