A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000927



Internal ID19090144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138704701..138913754hg38UCSC Ensembl
Innerchr3:138423543..138632596hg19UCSC Ensembl
Innerchr3:139906233..140115286hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38209054
hg19209054
hg18209054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3608334
Samples
Known GenesPIK3CB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000927
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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