A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519828



Internal ID15100435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94146899..94149730hg38UCSC Ensembl
Innerchr12:94540675..94543506hg19UCSC Ensembl
Innerchr12:93064806..93067637hg18UCSC Ensembl
Innerchr12:93043143..93045974hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382832
hg192832
hg182832
hg172832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682698, nssv658968
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519828
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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