A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428303



Internal ID18278067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34250820..34696046hg38UCSC Ensembl
Innerchr15:34543021..34988247hg19UCSC Ensembl
Innerchr15:32330313..32775539hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38445227
hg19445227
hg18445227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452711, nssv452706, nssv452697, nssv452695, nssv452700, nssv452684, nssv452705, nssv452689, nssv452702, nssv452696, nssv452683, nssv452699, nssv452693, nssv452688, nssv452713, nssv452701, nssv452690, nssv452712, nssv452708, nssv452685, nssv452694, nssv452691, nssv452692, nssv452707, nssv452710
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00462, HGDP01093, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471
Known GenesGOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, MIR5588, NOP10, NUTM1, SLC12A6
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)nsv428303
Frequency
Sample Size62
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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