A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450560



Internal ID18273450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180805451..181144053hg38UCSC Ensembl
Innerchr5:180232451..180571053hg19UCSC Ensembl
Innerchr5:180165057..180503659hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38338603
hg19338603
hg18338603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428133
Supporting Variants
SamplesHGDP00467
Known GenesBTNL3, BTNL8, BTNL9, HEIH, LINC00847, MGAT1, MIR8089, OR2V1, ZFP62
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)nssv450560
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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