A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546301



Internal ID15987024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55039978..55042513hg38UCSC Ensembl
Innerchr1:55505651..55508186hg19UCSC Ensembl
Innerchr1:55278239..55280774hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382536
hg192536
hg182536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713480
Samples
Known GenesPCSK9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546301
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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