A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593291



Internal ID16034014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1248181..1249601hg38UCSC Ensembl
Innerchr4:1241969..1243389hg19UCSC Ensembl
Innerchr4:1231969..1233389hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381421
hg191421
hg181421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987678, nssv987677, nssv987679, nssv987680
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)nsv593291
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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