A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030070



Internal ID18772601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7284738..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18398988
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3680297, nssv3680298, nssv3680295, nssv3680296, nssv3680299, nssv3756533
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, 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)nsv1030070
Frequency
Sample Size29084
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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