A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593088



Internal ID16380497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969372hg38UCSC Ensembl
Innerchr3:196695508..196696243hg19UCSC Ensembl
Innerchr3:198179905..198180640hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38736
hg19736
hg18736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8850n54
Supporting Variantsnssv986957
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593088
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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