A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428304



Internal ID18278068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43530960..43716382hg38UCSC Ensembl
Innerchr15:43823158..44008580hg19UCSC Ensembl
Innerchr15:41610450..41795872hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38185423
hg19185423
hg18185423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452734
SamplesNA18498
Known GenesCATSPER2, CKMT1A, CKMT1B, MAP1A, PPIP5K1, RNU6-28P, STRC
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)nsv428304
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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