A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593298



Internal ID16034021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1250479..1348733hg38UCSC Ensembl
Innerchr4:1244267..1342521hg19UCSC Ensembl
Innerchr4:1234267..1332521hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3898255
hg1998255
hg1898255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987687
Samples
Known GenesCTBP1-AS2, MAEA, UVSSA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593298
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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