A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028249



Internal ID19117467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67110122..67215008hg38UCSC Ensembl
Innerchr8:68022357..68127243hg19UCSC Ensembl
Innerchr8:68184911..68289797hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38104887
hg19104887
hg18104887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7235n100
Supporting Variantsnssv3689481
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)nsv1028249
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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