A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593287



Internal ID16034010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1247174..1251489hg38UCSC Ensembl
Innerchr4:1240962..1245277hg19UCSC Ensembl
Innerchr4:1230962..1235277hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384316
hg194316
hg184316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987671
Samples
Known GenesCTBP1, CTBP1-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593287
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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