A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451439



Internal ID18272963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12116533..12709792hg38UCSC Ensembl
Innerchr8:11974042..12567301hg19UCSC Ensembl
Innerchr8:12011451..12611672hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38593260
hg19593260
hg18600222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428195
Supporting Variants
SamplesHGDP00449
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7
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)nssv451439
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer