A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590277



Internal ID16031000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51370620..51466575hg38UCSC Ensembl
Innerchr3:51408051..51500591hg19UCSC Ensembl
Innerchr3:51383091..51475631hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3895956
hg1992541
hg1892541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151775
SamplesHGDP01324
Known GenesDOCK3, MANF, RBM15B, VPRBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590277
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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