A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590346



Internal ID16377755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53045032..53046335hg38UCSC Ensembl
Innerchr3:53079048..53080351hg19UCSC Ensembl
Innerchr3:53054088..53055391hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381304
hg191304
hg181304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8336n54
Supporting Variantsnssv963325, nssv963327, nssv963326, nssv963324
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590346
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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