A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590274



Internal ID16030997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51355615..51393226hg38UCSC Ensembl
Innerchr3:51393046..51430657hg19UCSC Ensembl
Innerchr3:51368086..51405697hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3837612
hg1937612
hg1837612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8321n54
Supporting Variantsnssv963055
Samples
Known GenesDOCK3, MANF, RBM15B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590274
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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