A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800469



Internal ID16094425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90501175..90733717hg38UCSC Ensembl
Innerchr12:90894952..91127494hg19UCSC Ensembl
Innerchr12:89419083..89651625hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38232543
hg19232543
hg18232543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559743
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800469
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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