A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557672



Internal ID15998395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18654397..18698600hg38UCSC Ensembl
Innerchr12:18807331..18851534hg19UCSC Ensembl
Innerchr12:18698598..18742801hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3844204
hg1944204
hg1844204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789461
Samples
Known GenesPLCZ1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557672
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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