A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590353



Internal ID16377762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53045252..53046238hg38UCSC Ensembl
Innerchr3:53079268..53080254hg19UCSC Ensembl
Innerchr3:53054308..53055294hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38987
hg19987
hg18987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8336n54
Supporting Variantsnssv963343, nssv963345, nssv963344
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590353
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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