A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042716



Internal ID18785247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2126462..2150789hg38UCSC Ensembl
Innerchr12:2235628..2259955hg19UCSC Ensembl
Innerchr12:2105889..2130216hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3824328
hg1924328
hg1824328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1339n100
Supporting Variantsnssv3512499
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)nsv1042716
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