A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451414



Internal ID18274015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7190144..8130061hg38UCSC Ensembl
Innerchr8:7047666..7987583hg19UCSC Ensembl
Innerchr8:7035076..8024993hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38939918
hg19939918
hg18989918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428194
Supporting Variants
SamplesHGDP01086
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, 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)nssv451414
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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