A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023597



Internal ID18766130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788793..7918809hg38UCSC Ensembl
Innerchr8:7646315..7776331hg19UCSC Ensembl
Innerchr8:7683725..7813741hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38130017
hg19130017
hg18130017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6960n100
Supporting Variantsnssv3680902
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1023597
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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