A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559760



Internal ID16000483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92096654..92140594hg38UCSC Ensembl
Innerchr12:92490430..92534370hg19UCSC Ensembl
Innerchr12:91014561..91058501hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3843941
hg1943941
hg1843941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800485
Samples
Known GenesBTG1, C12orf79
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559760
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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