A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594120



Internal ID16381529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48249899..48272135hg38UCSC Ensembl
Innerchr4:48251916..48274152hg19UCSC Ensembl
Innerchr4:47946673..47968909hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3822237
hg1922237
hg1822237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152909
Samples1798860592_A
Known GenesTEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594120
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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