A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030462



Internal ID19119681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114215638..114238687hg38UCSC Ensembl
Innerchr8:115227867..115250916hg19UCSC Ensembl
Innerchr8:115297043..115320092hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3823050
hg1923050
hg1823050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757344
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030462
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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