A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428302



Internal ID18278066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31646275..32694378hg38UCSC Ensembl
Innerchr15:31938478..32986579hg19UCSC Ensembl
Innerchr15:29725770..30773871hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg381048104
hg191048102
hg181048102
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452666, nssv452670, nssv452678, nssv452673, nssv452677, nssv452668, nssv452681, nssv452676, nssv452669, nssv452667, nssv452680, nssv452672, nssv452679, nssv452671, nssv452674
SamplesHGDP00450, HGDP00474, NA19257, NA19096, NA18916, NA19181, HGDP01089, HGDP00467, NA18498, HGDP00478, NA19113, HGDP00471
Known GenesARHGAP11A, CHRNA7, GOLGA8K, GOLGA8O, GOLGA8R, LOC100996255, OTUD7A, SCG5, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)nsv428302
Frequency
Sample Size62
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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