A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428382



Internal ID18278146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10337224..10764692hg38UCSC Ensembl
Innerchr21:10747765..11175233hg19UCSC Ensembl
Innerchr21:9769636..10197104hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38427469
hg19427469
hg18427469
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453880, nssv453885, nssv453881, nssv453884, nssv453883, nssv453878, nssv453898, nssv453902, nssv453888, nssv453890, nssv453882, nssv453900, nssv453879, nssv453901, nssv453887, nssv453899, nssv453889
SamplesHGDP00450, HGDP00984, NA19108, HGDP00462, HGDP01093, HGDP01087, HGDP01094, HGDP00467, HGDP01088, HGDP01086, NA19225, HGDP00460, HGDP00449
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
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)nsv428382
Frequency
Sample Size62
Observed Gain12
Observed Loss5
Observed Complex0
Frequencyn/a


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