A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593750



Internal ID16034473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:13259081..13726709hg38UCSC Ensembl
Innerchr4:13260705..13728333hg19UCSC Ensembl
Innerchr4:12869803..13337431hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38467629
hg19467629
hg18467629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv993075
Samples
Known GenesBOD1L1, LINC01096, LINC01097, MIR5091, NKX3-2, RAB28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593750
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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