A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453603



Internal ID18273400
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 StatusS
Merged Variantsnsv428360
Supporting Variants
SamplesHGDP00467
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)nssv453603
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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