A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593086



Internal ID16033809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196897131..196958250hg38UCSC Ensembl
Innerchr3:196624002..196685121hg19UCSC Ensembl
Innerchr3:198108399..198169518hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3861120
hg1961120
hg1861120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv986954
Samples
Known GenesNCBP2, NCBP2-AS2, PIGZ, SENP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593086
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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