A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590341



Internal ID16377750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53043356..53045506hg38UCSC Ensembl
Innerchr3:53077372..53079522hg19UCSC Ensembl
Innerchr3:53052412..53054562hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382151
hg192151
hg182151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8334n54
Supporting Variantsnssv963318
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590341
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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