A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428360



Internal ID18278124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:232069..702131hg38UCSC Ensembl
Innerchr19:232069..702131hg19UCSC Ensembl
Innerchr19:183069..653131hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38470063
hg19470063
hg18470063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453603, nssv453604
SamplesHGDP00467, NA19113
Known GenesBSG, C2CD4C, CDC34, FGF22, FSTL3, GZMM, HCN2, MADCAM1, MIER2, ODF3L2, POLRMT, PPAP2C, PRSS57, RNF126, SHC2, THEG, TPGS1
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)nsv428360
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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