A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558708



Internal ID16346117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42623723..42633651hg38UCSC Ensembl
Innerchr12:43017525..43027453hg19UCSC Ensembl
Innerchr12:41303792..41313720hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389929
hg199929
hg189929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2596n54
Supporting Variantsnssv794069, nssv794070, nssv794068
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558708
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer