A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560391



Internal ID16347800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118520803..118581338hg38UCSC Ensembl
Innerchr12:118958608..119019143hg19UCSC Ensembl
Innerchr12:117442991..117503526hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3860536
hg1960536
hg1860536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803310
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560391
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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