A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453359



Internal ID18274281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19436732..19682461hg38UCSC Ensembl
Innerchr17:19340045..19585774hg19UCSC Ensembl
Innerchr17:19280637..19526366hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38245730
hg19245730
hg18245730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428337
Supporting Variants
SamplesHGDP01093
Known GenesALDH3A2, SLC47A1, SLC47A2, SNORA59A, SNORA59B
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)nssv453359
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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