A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026567



Internal ID18769099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7368769..7880901hg38UCSC Ensembl
Innerchr8:7226291..7738423hg19UCSC Ensembl
Innerchr8:7213701..7775833hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38512133
hg19512133
hg18562133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678907
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026567
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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