A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051667



Internal ID18794198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32718926..32766739hg38UCSC Ensembl
Innerchr12:32871860..32919673hg19UCSC Ensembl
Innerchr12:32763127..32810940hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3847814
hg1947814
hg1847814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1429n100
Supporting Variantsnssv3520596
Samples
Known GenesDNM1L, YARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051667
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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