A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043203



Internal ID18785734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30962179..31012196hg38UCSC Ensembl
Innerchr12:31115114..31165130hg19UCSC Ensembl
Innerchr12:31006381..31056397hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3850018
hg1950017
hg1850017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1416n100
Supporting Variantsnssv3514884
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043203
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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