A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558179



Internal ID15998902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178735..32197769hg38UCSC Ensembl
Innerchr12:32331669..32350703hg19UCSC Ensembl
Innerchr12:32222936..32241970hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3819035
hg1919035
hg1819035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791916
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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