A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006637



Internal ID19095854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192217112..192229993hg38UCSC Ensembl
Innerchr3:191934901..191947782hg19UCSC Ensembl
Innerchr3:193417595..193430476hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812882
hg1912882
hg1812882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5009n100
Supporting Variantsnssv3611351
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)nsv1006637
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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