A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593690



Internal ID16034413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9832483..9862074hg38UCSC Ensembl
Innerchr4:9834107..9863698hg19UCSC Ensembl
Innerchr4:9443205..9472796hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3829592
hg1929592
hg1829592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152673
SamplesHGDP00832
Known GenesSLC2A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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