A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025342



Internal ID18767874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7545796hg38UCSC Ensembl
Innerchr8:7254279..7403318hg19UCSC Ensembl
Innerchr8:7241689..7390728hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38149040
hg19149040
hg18149040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6933n100
Supporting Variantsnssv3679610
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025342
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