A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594117



Internal ID16034840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:46633150..46844025hg38UCSC Ensembl
Innerchr4:46635167..46846042hg19UCSC Ensembl
Innerchr4:46329924..46540799hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38210876
hg19210876
hg18210876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv997557
Samples
Known GenesCOX7B2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594117
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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