A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053183



Internal ID19142402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41643678..41666011hg38UCSC Ensembl
Innerchr12:42037480..42059813hg19UCSC Ensembl
Innerchr12:40323747..40346080hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822334
hg1922334
hg1822334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1492n100
Supporting Variantsnssv3523503
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)nsv1053183
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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