A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546288



Internal ID15987011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54627731..54629245hg38UCSC Ensembl
Innerchr1:55093404..55094918hg19UCSC Ensembl
Innerchr1:54865992..54867506hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381515
hg191515
hg181515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279n54
Supporting Variantsnssv713465
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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