A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038302



Internal ID19127521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148419hg38UCSC Ensembl
Innerchr12:2245850..2257585hg19UCSC Ensembl
Innerchr12:2116111..2127846hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811736
hg1911736
hg1811736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3521088, nssv3710831, nssv3509037, nssv3508141, nssv3710830, nssv3514211, nssv3710828, nssv3521419, nssv3710829, nssv3521584, nssv3710826, nssv3513799, nssv3505637, nssv3710825, nssv3710832, nssv3506241, nssv3513946, nssv3517835, nssv3710827, nssv3518567, nssv3504785, nssv3710824, nssv3507786, nssv3506066, nssv3507658
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038302
Frequency
Sample Size11257
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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