A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594700



Internal ID16382109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77816935..77819447hg38UCSC Ensembl
Innerchr4:78738089..78740601hg19UCSC Ensembl
Innerchr4:78957113..78959625hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg382513
hg192513
hg182513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002373
Samples
Known GenesCNOT6L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594700
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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