A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558834



Internal ID15999557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49282227..49297784hg38UCSC Ensembl
Innerchr12:49676010..49691567hg19UCSC Ensembl
Innerchr12:47962277..47977834hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815558
hg1915558
hg1815558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795818
Samples
Known GenesPRPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558834
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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