A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022131



Internal ID18764665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477475..7545521hg38UCSC Ensembl
Innerchr8:7334997..7403043hg19UCSC Ensembl
Innerchr8:7322407..7390453hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3868047
hg1968047
hg1868047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6945n100
Supporting Variantsnssv3680448
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022131
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