A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034383



Internal ID19123605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7022528..7153553hg38UCSC Ensembl
Innerchr8:6880050..7011075hg19UCSC Ensembl
Innerchr8:6867460..6998485hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38131026
hg19131026
hg18131026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6883n100
Supporting Variantsnssv3677453
Samples
Known GenesDEFA11P, DEFA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034383
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