A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689486



Internal ID18987767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67126526..67222876hg38UCSC Ensembl
Innerchr8:68038761..68135111hg19UCSC Ensembl
Innerchr8:68201315..68297665hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3896351
hg1996351
hg1896351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026508
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)nssv3689486
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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