A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689482



Internal ID18987763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67110122..67217520hg38UCSC Ensembl
Innerchr8:68022357..68129755hg19UCSC Ensembl
Innerchr8:68184911..68292309hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38107399
hg19107399
hg18107399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029236
Supporting Variants
Samples
Known GenesARFGEF1, CSPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689482
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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