A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054642



Internal ID19143861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133084713..133133230hg38UCSC Ensembl
Innerchr12:133661299..133709816hg19UCSC Ensembl
Innerchr12:132171372..132219889hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3848518
hg1948518
hg1848518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1594n100
Supporting Variantsnssv3526396
Samples
Known GenesZNF10, ZNF140, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054642
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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