A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428299



Internal ID18624749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28042424..28817373hg38UCSC Ensembl
Innerchr15:28287570..29062519hg19UCSC Ensembl
Innerchr15:25961165..26861560hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38774950
hg19774950
hg18900396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452644, nssv452637, nssv452641, nssv452639, nssv452645, nssv452638, nssv452640
SamplesNA18498, HGDP00460, HGDP00450, HGDP00986, NA19108, NA19147, HGDP00472
Known GenesGOLGA8F, GOLGA8G, GOLGA8M, HERC2, HERC2P9, LOC100289656, LOC646278, MIR4509-1, MIR4509-2, MIR4509-3, OCA2, WHAMMP2
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)nsv428299
Frequency
Sample Size62
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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