A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040409



Internal ID18782940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148695hg38UCSC Ensembl
Innerchr12:2245850..2257861hg19UCSC Ensembl
Innerchr12:2116111..2128122hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812012
hg1912012
hg1812012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3710833, nssv3710834, nssv3515471
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)nsv1040409
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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