A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038226



Internal ID18780757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968689..9990992hg38UCSC Ensembl
Innerchr12:10121288..10143591hg19UCSC Ensembl
Innerchr12:10012555..10034858hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3822304
hg1922304
hg1822304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508355
Samples
Known GenesCLEC12A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038226
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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