A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593090



Internal ID16380499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969596hg38UCSC Ensembl
Innerchr3:196695508..196696467hg19UCSC Ensembl
Innerchr3:198179905..198180864hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38960
hg19960
hg18960
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8853n54
Supporting Variantsnssv986960, nssv986959, nssv986961
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593090
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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