A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593623



Internal ID16034346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7989860..8010440hg38UCSC Ensembl
Innerchr4:7991587..8012167hg19UCSC Ensembl
Innerchr4:8042487..8063067hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3820581
hg1920581
hg1820581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv991228
Samples
Known GenesABLIM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593623
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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