A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452043



Internal ID18275200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4199986..4421809hg38UCSC Ensembl
Innerchr11:4221216..4443039hg19UCSC Ensembl
Innerchr11:4177792..4399615hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38221824
hg19221824
hg18221824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428248
Supporting Variants
SamplesNA19225
Known GenesLOC100506082, OR52B4, TRIM21
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)nssv452043
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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