A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013198



Internal ID18755729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124982928..125015482hg38UCSC Ensembl
Innerchr3:124701772..124734326hg19UCSC Ensembl
Innerchr3:126184462..126217016hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3832555
hg1932555
hg1832555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604535
Samples
Known GenesHEG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013198
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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