A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560990



Internal ID16001713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132304118..132314294hg38UCSC Ensembl
Innerchr12:132880704..132890880hg19UCSC Ensembl
Innerchr12:131390777..131400953hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3810177
hg1910177
hg1810177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3026n54
Supporting Variantsnssv805577, nssv805576, nssv805578
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560990
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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