A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559361



Internal ID16000084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71886804..71913836hg38UCSC Ensembl
Innerchr12:72280584..72307616hg19UCSC Ensembl
Innerchr12:70566851..70593883hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3827033
hg1927033
hg1827033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798605
Samples
Known GenesTBC1D15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559361
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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