A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546147



Internal ID15986870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44799202..44805425hg38UCSC Ensembl
Innerchr1:45264874..45271097hg19UCSC Ensembl
Innerchr1:45037461..45043684hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386224
hg196224
hg186224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712878
Samples
Known GenesPLK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546147
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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