A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451397



Internal ID18274467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7045699..8207953hg38UCSC Ensembl
Innerchr8:6903221..8065475hg19UCSC Ensembl
Innerchr8:6890631..8102885hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381162255
hg191162255
hg181212255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428194
Supporting Variants
SamplesNA18498
Known GenesDEFA5, DEFB103A, 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)nssv451397
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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