A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454306



Internal ID18274213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195478549..195893011hg38UCSC Ensembl
Innerchr3:195201080..195619882hg19UCSC Ensembl
Innerchr3:196682369..197104279hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38414463
hg19418803
hg18421911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428430
Supporting Variants
SamplesHGDP01089
Known GenesAPOD, MIR5692C1, MIR570, MIR6829, MUC20, MUC4, PPP1R2, SDHAP2, TNK2
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)nssv454306
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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