A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558333



Internal ID16345742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34635973..34685916hg38UCSC Ensembl
Innerchr12:34788908..34838851hg19UCSC Ensembl
Innerchr12:34680175..34730118hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3849944
hg1949944
hg1849944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2520n54
Supporting Variantsnssv793115
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558333
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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