A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561106



Internal ID16348515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132578397..132605822hg38UCSC Ensembl
Innerchr12:133154983..133182408hg19UCSC Ensembl
Innerchr12:131665056..131692481hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827426
hg1927426
hg1827426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3052n54
Supporting Variantsnssv1175900
Samples1780862093_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)nsv561106
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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