A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593335



Internal ID16034058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1644637..1864631hg38UCSC Ensembl
Innerchr4:1646364..1866358hg19UCSC Ensembl
Innerchr4:1616181..1836156hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38219995
hg19219995
hg18219976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8901n54
Supporting Variantsnssv988439
Samples
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593335
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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