A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454393



Internal ID18274031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..9512919hg38UCSC Ensembl
Innerchr4:9324644..9514568hg19UCSC Ensembl
Innerchr4:8933742..9123666hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38190002
hg19189925
hg18189925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428437
Supporting Variants
SamplesHGDP01086
Known GenesDEFB131, LOC650293, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nssv454393
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