A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029274



Internal ID18771806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7535076hg38UCSC Ensembl
Innerchr8:7297328..7392598hg19UCSC Ensembl
Innerchr8:7284738..7380008hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3895271
hg1995271
hg1895271
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680250, nssv3680249
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029274
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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