A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045005



Internal ID19134224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133041115..133123312hg38UCSC Ensembl
Innerchr12:133617701..133699898hg19UCSC Ensembl
Innerchr12:132127774..132209971hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3882198
hg1982198
hg1882198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1592n100
Supporting Variantsnssv3526392
Samples
Known GenesZNF140, ZNF84, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045005
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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