A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454179



Internal ID18275136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231795602..231968956hg38UCSC Ensembl
Innerchr2:232660312..232833666hg19UCSC Ensembl
Innerchr2:232368556..232541910hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38173355
hg19173355
hg18173355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428408
Supporting Variants
SamplesNA19189
Known GenesCOPS7B, DIS3L2, MIR1471, NPPC
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)nssv454179
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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