A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050699



Internal ID19139918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86667243..86743710hg38UCSC Ensembl
Innerchr12:87061020..87137487hg19UCSC Ensembl
Innerchr12:85585151..85661618hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3876468
hg1976468
hg1876468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524771
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050699
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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