A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026299



Internal ID18768831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7535423hg38UCSC Ensembl
Innerchr8:7267353..7392945hg19UCSC Ensembl
Innerchr8:7254763..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38125593
hg19125593
hg18125593
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3679728, nssv3755257, nssv3679727
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026299
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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