A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027283



Internal ID19116502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:426084..672968hg38UCSC Ensembl
Innerchr8:376084..622968hg19UCSC Ensembl
Innerchr8:366084..612968hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38246885
hg19246885
hg18246885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757760
Samples
Known GenesERICH1, FBXO25, TDRP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027283
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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