A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044642



Internal ID19133861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10758175..10801785hg38UCSC Ensembl
Innerchr12:10910774..10954384hg19UCSC Ensembl
Innerchr12:10802041..10845651hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3843611
hg1943611
hg1843611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708746
Samples
Known GenesTAS2R7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044642
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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