A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559000



Internal ID15999723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54343917..54396183hg38UCSC Ensembl
Innerchr12:54737701..54789967hg19UCSC Ensembl
Innerchr12:53023968..53076234hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3852267
hg1952267
hg1852267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796285
Samples
Known GenesCOPZ1, GPR84, ITGA5, ZNF385A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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