A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590344



Internal ID16377753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53045032..53045975hg38UCSC Ensembl
Innerchr3:53079048..53079991hg19UCSC Ensembl
Innerchr3:53054088..53055031hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38944
hg19944
hg18944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8336n54
Supporting Variantsnssv963322
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590344
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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