A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428152



Internal ID18624602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103234249..103357128hg38UCSC Ensembl
Innerchr6:103682124..103805003hg19UCSC Ensembl
Innerchr6:103788817..103911696hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38122880
hg19122880
hg18122880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450838, nssv450839, nssv450844, nssv450829, nssv450843, nssv450840, nssv450832, nssv450835, nssv450827, nssv450841, nssv450834, nssv450836, nssv450833, nssv450830, nssv450828, nssv450837
SamplesHGDP01087, HGDP00462, HGDP00463, HGDP01088, HGDP01089, NA19189, HGDP00460, HGDP00473, HGDP00986, NA19113, NA19225, HGDP01094, HGDP00984, NA19096, HGDP00478, HGDP00449
Known Genes
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)nsv428152
Frequency
Sample Size62
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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