A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593278



Internal ID16034001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1165892..1421910hg38UCSC Ensembl
Innerchr4:1159680..1415698hg19UCSC Ensembl
Innerchr4:1149680..1405698hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38256019
hg19256019
hg18256019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987664
Samples
Known GenesCRIPAK, CTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, MAEA, SPON2, UVSSA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593278
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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