A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051515



Internal ID18794046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98664305..98825125hg38UCSC Ensembl
Innerchr12:99058083..99218903hg19UCSC Ensembl
Innerchr12:97582214..97743034hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38160821
hg19160821
hg18160821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524851
Samples
Known GenesANKS1B, APAF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051515
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