A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037977



Internal ID18780508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18409166..18421835hg38UCSC Ensembl
Innerchr12:18562100..18574769hg19UCSC Ensembl
Innerchr12:18453367..18466036hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812670
hg1912670
hg1812670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397n100
Supporting Variantsnssv3521280, nssv3513142
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)nsv1037977
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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