A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032775



Internal ID18775309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:104299136..104397744hg38UCSC Ensembl
Innerchr8:105311364..105409972hg19UCSC Ensembl
Innerchr8:105380540..105479148hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3898609
hg1998609
hg1898609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691262
Samples
Known GenesDCSTAMP, DPYS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032775
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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