A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046420



Internal ID19135639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133097005..133177617hg38UCSC Ensembl
Innerchr12:133673591..133754203hg19UCSC Ensembl
Innerchr12:132183664..132264276hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3880613
hg1980613
hg1880613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1595n100
Supporting Variantsnssv3712690
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)nsv1046420
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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