A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558142



Internal ID16345551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31848581..31910068hg38UCSC Ensembl
Innerchr12:32001515..32063002hg19UCSC Ensembl
Innerchr12:31892782..31954269hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3861488
hg1961488
hg1861488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2483n54
Supporting Variantsnssv1176286
SamplesNINDS_37
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558142
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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