A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546300



Internal ID15987023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54795278..54807907hg38UCSC Ensembl
Innerchr1:55260951..55273580hg19UCSC Ensembl
Innerchr1:55033539..55046168hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812630
hg1912630
hg1812630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713479
Samples
Known GenesC1orf177, TTC22
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546300
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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