A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558145



Internal ID16345554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31850394..31919663hg38UCSC Ensembl
Innerchr12:32003328..32072597hg19UCSC Ensembl
Innerchr12:31894595..31963864hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3869270
hg1969270
hg1869270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483n54
Supporting Variantsnssv791805
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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