A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046263



Internal ID18788794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18528168..18596280hg38UCSC Ensembl
Innerchr12:18681102..18749214hg19UCSC Ensembl
Innerchr12:18572369..18640481hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3868113
hg1968113
hg1868113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512768
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046263
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