A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558185



Internal ID15998908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178974..32182257hg38UCSC Ensembl
Innerchr12:32331908..32335191hg19UCSC Ensembl
Innerchr12:32223175..32226458hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2491n54
Supporting Variantsnssv791930, nssv791931
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558185
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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