A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032783



Internal ID18775317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7534850hg38UCSC Ensembl
Innerchr8:7267353..7392372hg19UCSC Ensembl
Innerchr8:7254763..7379782hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38125020
hg19125020
hg18125020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6933n100
Supporting Variantsnssv3679725, nssv3679726, nssv3755256
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032783
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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