A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590210



Internal ID16377619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47085053..47172632hg38UCSC Ensembl
Innerchr3:47126543..47214122hg19UCSC Ensembl
Innerchr3:47101547..47189126hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3887580
hg1987580
hg1887580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151769
SamplesHGDP00133
Known GenesKIF9-AS1, SETD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590210
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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