A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054878



Internal ID18797409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121082077..121328424hg38UCSC Ensembl
Innerchr12:121519880..121766227hg19UCSC Ensembl
Innerchr12:120004263..120250610hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38246348
hg19246348
hg18246348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526090
Samples
Known GenesANAPC5, CAMKK2, P2RX4, P2RX7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054878
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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