A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028166



Internal ID18770697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7982308hg38UCSC Ensembl
Innerchr8:7267353..7839830hg19UCSC Ensembl
Innerchr8:7254763..7877240hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38572478
hg19572478
hg18622478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3680036, nssv3680035
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028166
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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