A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029956



Internal ID18772487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7896858hg38UCSC Ensembl
Innerchr8:7267353..7754380hg19UCSC Ensembl
Innerchr8:7254763..7791790hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38487028
hg19487028
hg18537028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3755291, nssv3756399
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029956
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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