A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033269



Internal ID19122491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12496209hg38UCSC Ensembl
Innerchr8:12239823..12353718hg19UCSC Ensembl
Innerchr8:12284194..12398089hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38113896
hg19113896
hg18113896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7058n100
Supporting Variantsnssv3760037
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033269
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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