A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428311



Internal ID18278075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85107707..85486274hg38UCSC Ensembl
Innerchr15:85650938..86029505hg19UCSC Ensembl
Innerchr15:83451942..83830509hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38378568
hg19378568
hg18378568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452835, nssv452836
SamplesNA18916, NA19096
Known GenesAKAP13, LOC440300, LOC642423, PDE8A
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)nsv428311
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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