A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033248



Internal ID18775782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7896694..7930199hg38UCSC Ensembl
Innerchr8:7754216..7787721hg19UCSC Ensembl
Innerchr8:7791626..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833506
hg1933506
hg1833506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6981n100
Supporting Variantsnssv3753788
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033248
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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