A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560133



Internal ID16000856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109712747..109732223hg38UCSC Ensembl
Innerchr12:110150552..110170028hg19UCSC Ensembl
Innerchr12:108634935..108654411hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3819477
hg1919477
hg1819477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801952
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560133
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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