A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558183



Internal ID15998906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178974..32181927hg38UCSC Ensembl
Innerchr12:32331908..32334861hg19UCSC Ensembl
Innerchr12:32223175..32226128hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382954
hg192954
hg182954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2491n54
Supporting Variantsnssv791922
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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