A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046450



Internal ID19135669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98279836..98310417hg38UCSC Ensembl
Innerchr12:98673614..98704195hg19UCSC Ensembl
Innerchr12:97197745..97228326hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3830582
hg1930582
hg1830582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524848
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046450
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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