A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047458



Internal ID19136677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90054654..90098285hg38UCSC Ensembl
Innerchr12:90448431..90492062hg19UCSC Ensembl
Innerchr12:88972562..89016193hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3843632
hg1943632
hg1843632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1544n100
Supporting Variantsnssv3524811
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)nsv1047458
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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