A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021345



Internal ID18763879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103349626..103867456hg38UCSC Ensembl
Innerchr8:104361854..104879684hg19UCSC Ensembl
Innerchr8:104431030..104948860hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38517831
hg19517831
hg18517831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7279n100
Supporting Variantsnssv3691260
Samples
Known GenesCTHRC1, DCAF13, RIMS2, SLC25A32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021345
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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