A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037074



Internal ID18779605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132613063..132801953hg38UCSC Ensembl
Innerchr12:133189649..133378539hg19UCSC Ensembl
Innerchr12:131699722..131888612hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38188891
hg19188891
hg18188891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526381
Samples
Known GenesANKLE2, GOLGA3, P2RX2, PGAM5, POLE, PXMP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037074
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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