A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428250



Internal ID18278014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18797182..19060521hg38UCSC Ensembl
Innerchr11:18818729..19082068hg19UCSC Ensembl
Innerchr11:18775305..19038644hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38263340
hg19263340
hg18263340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452058, nssv452059
SamplesNA18916, HGDP01094
Known GenesMRGPRX1, MRGPRX2
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)nsv428250
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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