A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593226



Internal ID16033949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:948218..1025223hg38UCSC Ensembl
Innerchr4:942006..1019011hg19UCSC Ensembl
Innerchr4:932006..1009011hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3877006
hg1977006
hg1877006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987438
Samples
Known GenesDGKQ, FGFRL1, IDUA, SLC26A1, TMEM175
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593226
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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