A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033391



Internal ID18775925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7425444..7783985hg38UCSC Ensembl
Innerchr8:7282966..7641507hg19UCSC Ensembl
Innerchr8:7270376..7678917hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38358542
hg19358542
hg18408542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3680156
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, 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)nsv1033391
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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