A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452683



Internal ID18619676
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 StatusS
Merged Variantsnsv428303
Supporting Variants
SamplesHGDP00449
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)nssv452683
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer