A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017018



Internal ID18759553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7540351hg38UCSC Ensembl
Innerchr8:7267353..7397873hg19UCSC Ensembl
Innerchr8:7254763..7385283hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38130521
hg19130521
hg18130521
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3679729, nssv3755258
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1017018
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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