A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453305



Internal ID18273084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18296767..18506312hg38UCSC Ensembl
Innerchr17:18200081..18409626hg19UCSC Ensembl
Innerchr17:18140806..18350351hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38209546
hg19209546
hg18209546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428333
Supporting Variants
SamplesHGDP00450
Known GenesEVPLL, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1, SMCR8, TOP3A
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)nssv453305
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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