A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054436



Internal ID19143655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90049705..90089561hg38UCSC Ensembl
Innerchr12:90443482..90483338hg19UCSC Ensembl
Innerchr12:88967613..89007469hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3839857
hg1939857
hg1839857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1545n100
Supporting Variantsnssv3524810
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054436
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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