A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592650



Internal ID16033373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179250846..179534475hg38UCSC Ensembl
Innerchr3:178968634..179252263hg19UCSC Ensembl
Innerchr3:180451328..180734957hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38283630
hg19283630
hg18283630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152553
SamplesHGDP00468
Known GenesGNB4, KCNMB3, MFN1, ZNF639
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592650
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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