A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016837



Internal ID18759372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7987051hg38UCSC Ensembl
Innerchr8:7752036..7844573hg19UCSC Ensembl
Innerchr8:7789446..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3892538
hg1992538
hg1892538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6970n100
Supporting Variantsnssv3753786
Samples
Known GenesDEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016837
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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