A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018099



Internal ID18760632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7513944hg38UCSC Ensembl
Innerchr8:7250368..7371466hg19UCSC Ensembl
Innerchr8:7237778..7358876hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121099
hg19121099
hg18121099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6928n100
Supporting Variantsnssv3755030
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)nsv1018099
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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