A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451402



Internal ID18274866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7045699..8317524hg38UCSC Ensembl
Innerchr8:6903221..8175046hg19UCSC Ensembl
Innerchr8:6890631..8212456hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381271826
hg191271826
hg181321826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428194
Supporting Variants
SamplesNA19113
Known GenesDEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, 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)nssv451402
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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