A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428205



Internal ID18277969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115329343..115510682hg38UCSC Ensembl
Innerchr8:116341572..116522909hg19UCSC Ensembl
Innerchr8:116410748..116592085hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38181340
hg19181338
hg18181338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451584, nssv451583, nssv451582
SamplesHGDP00463, HGDP00986, HGDP01094
Known GenesTRPS1
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)nsv428205
Frequency
Sample Size62
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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