A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428308



Internal ID18278072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:73922773..74172575hg38UCSC Ensembl
Innerchr15:74215114..74464916hg19UCSC Ensembl
Innerchr15:72002167..72251969hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38249803
hg19249803
hg18249803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452741, nssv452744, nssv452743
SamplesHGDP00463, NA18498, NA19225
Known GenesGOLGA6A, ISLR2, LOC283731, LOXL1, LOXL1-AS1, PML, STOML1
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)nsv428308
Frequency
Sample Size62
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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