A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561104



Internal ID16001827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132516994..132614597hg38UCSC Ensembl
Innerchr12:133093580..133191183hg19UCSC Ensembl
Innerchr12:131603653..131701256hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3897604
hg1997604
hg1897604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3046n54
Supporting Variantsnssv1175898
Samples1780862346_A
Known GenesFBRSL1, LRCOL1, MIR6763
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561104
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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