A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044505



Internal ID19133724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115811356..115843165hg38UCSC Ensembl
Innerchr12:116249161..116280970hg19UCSC Ensembl
Innerchr12:114733544..114765353hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3831810
hg1931810
hg1831810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1560n100
Supporting Variantsnssv3524959
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)nsv1044505
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