A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000060



Internal ID18742591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191641572..192217259hg38UCSC Ensembl
Innerchr3:191359361..191935048hg19UCSC Ensembl
Innerchr3:192842055..193417742hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38575688
hg19575688
hg18575688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5007n100
Supporting Variantsnssv3611339
Samples
Known GenesFGF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000060
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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