A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560979



Internal ID16001702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132303607..132305655hg38UCSC Ensembl
Innerchr12:132880193..132882241hg19UCSC Ensembl
Innerchr12:131390266..131392314hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3022n54
Supporting Variantsnssv805525, nssv805523, nssv805524
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560979
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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