A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016901



Internal ID19106118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:285367..467709hg38UCSC Ensembl
Innerchr8:235367..417709hg19UCSC Ensembl
Innerchr8:225367..407709hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38182343
hg19182343
hg18182343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6792n100
Supporting Variantsnssv3674919
Samples
Known GenesFAM87A, FBXO25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016901
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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