A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560131



Internal ID16000854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109712747..109714801hg38UCSC Ensembl
Innerchr12:110150552..110152606hg19UCSC Ensembl
Innerchr12:108634935..108636989hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2857n54
Supporting Variantsnssv801948
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560131
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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