A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558789



Internal ID15999512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47974758..47983086hg38UCSC Ensembl
Innerchr12:48368541..48376869hg19UCSC Ensembl
Innerchr12:46654808..46663136hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg388329
hg198329
hg188329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795297
Samples
Known GenesCOL2A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558789
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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