A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590333



Internal ID16377742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52998619..53004102hg38UCSC Ensembl
Innerchr3:53032635..53038118hg19UCSC Ensembl
Innerchr3:53007675..53013158hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg385484
hg195484
hg185484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8333n54
Supporting Variantsnssv963278
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590333
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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