A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043720



Internal ID18786251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30980839..30997119hg38UCSC Ensembl
Innerchr12:31133774..31150054hg19UCSC Ensembl
Innerchr12:31025041..31041321hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3816281
hg1916281
hg1816281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3507270
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)nsv1043720
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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