A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593092



Internal ID16380501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969699hg38UCSC Ensembl
Innerchr3:196695508..196696570hg19UCSC Ensembl
Innerchr3:198179905..198180967hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381063
hg191063
hg181063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8852n54
Supporting Variantsnssv986963
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593092
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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