A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048291



Internal ID18790822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136938..2148845hg38UCSC Ensembl
Innerchr12:2246104..2258011hg19UCSC Ensembl
Innerchr12:2116365..2128272hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811908
hg1911908
hg1811908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3510752
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)nsv1048291
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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