A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040098



Internal ID18782629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3987637..5646161hg38UCSC Ensembl
Innerchr12:4096803..5755327hg19UCSC Ensembl
Innerchr12:3967064..5625588hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381658525
hg191658525
hg181658525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3511746
Samples
Known GenesAKAP3, ANO2, C12orf4, C12orf5, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040098
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