A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029830



Internal ID18772361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7452790..7545521hg38UCSC Ensembl
Innerchr8:7310312..7403043hg19UCSC Ensembl
Innerchr8:7297722..7390453hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3892732
hg1992732
hg1892732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3680356
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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