A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593281



Internal ID16034004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1209477..1358897hg38UCSC Ensembl
Innerchr4:1203265..1352685hg19UCSC Ensembl
Innerchr4:1193265..1342685hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38149421
hg19149421
hg18149421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987665
Samples
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, MAEA, UVSSA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593281
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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