A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451423



Internal ID18273828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..7998234hg38UCSC Ensembl
Innerchr8:7169416..7855756hg19UCSC Ensembl
Innerchr8:7156826..7893166hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38686341
hg19686341
hg18736341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428194
Supporting Variants
SamplesHGDP00478
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv451423
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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