A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558898



Internal ID15999621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52009326..52122725hg38UCSC Ensembl
Innerchr12:52403110..52516509hg19UCSC Ensembl
Innerchr12:50689377..50802776hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38113400
hg19113400
hg18113400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795965
Samples
Known GenesC12orf44, GRASP, NR4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558898
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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