A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593089



Internal ID16380498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969423hg38UCSC Ensembl
Innerchr3:196695508..196696294hg19UCSC Ensembl
Innerchr3:198179905..198180691hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38787
hg19787
hg18787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8850n54
Supporting Variantsnssv986958
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593089
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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