A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593091



Internal ID16380500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969647hg38UCSC Ensembl
Innerchr3:196695508..196696518hg19UCSC Ensembl
Innerchr3:198179905..198180915hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8851n54
Supporting Variantsnssv986962
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593091
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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