A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518970



Internal ID15446263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133100763..133202210hg38UCSC Ensembl
Innerchr12:133677349..133778796hg19UCSC Ensembl
Innerchr12:132187422..132288869hg18UCSC Ensembl
Innerchr12:132287699..132389146hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38101448
hg19101448
hg18101448
hg17101448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696438
Samples
Known GenesZNF10, ZNF140, ZNF268, ZNF891
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518970
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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