A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020003



Internal ID18762538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7535423hg38UCSC Ensembl
Innerchr8:7255036..7392945hg19UCSC Ensembl
Innerchr8:7242446..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38137910
hg19137910
hg18137910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6933n100
Supporting Variantsnssv3679661
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)nsv1020003
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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