A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017860



Internal ID19107077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:211222..460640hg38UCSC Ensembl
Innerchr8:161222..410640hg19UCSC Ensembl
Innerchr8:151222..400640hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38249419
hg19249419
hg18249419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6791n100
Supporting Variantsnssv3674916
Samples
Known GenesFAM87A, FBXO25, RPL23AP53, ZNF596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017860
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer