A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558314



Internal ID16345723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34345479..34701368hg38UCSC Ensembl
Innerchr12:34498414..34854303hg19UCSC Ensembl
Innerchr12:34389681..34745570hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38355890
hg19355890
hg18355890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793096
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558314
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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