A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594807



Internal ID16035530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88982973..89065175hg38UCSC Ensembl
Innerchr4:89904124..89986326hg19UCSC Ensembl
Innerchr4:90123147..90205349hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3882203
hg1982203
hg1882203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153472
SamplesHGDP00541
Known GenesFAM13A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594807
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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