A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593375



Internal ID16380784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2243138..2251253hg38UCSC Ensembl
Innerchr4:2244865..2252980hg19UCSC Ensembl
Innerchr4:2214663..2222778hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388116
hg198116
hg188116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv988531
Samples
Known GenesMIR4800, MXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593375
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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