A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020695



Internal ID18763230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7425444..7540695hg38UCSC Ensembl
Innerchr8:7282966..7398217hg19UCSC Ensembl
Innerchr8:7270376..7385627hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38115252
hg19115252
hg18115252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6933n100
Supporting Variantsnssv3680151
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1020695
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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