A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593479



Internal ID16034202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4899358..5459331hg38UCSC Ensembl
Innerchr4:4901085..5461058hg19UCSC Ensembl
Innerchr4:4951986..5511959hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38559974
hg19559974
hg18559974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989308
Samples
Known GenesCYTL1, STK32B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593479
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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