A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428254



Internal ID18278018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49981439..50111826hg38UCSC Ensembl
Innerchr11:50002975..50070997hg19UCSC Ensembl
Innerchr11:49959551..50027573hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38130388
hg1968023
hg1868023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452079, nssv452076, nssv452077, nssv452078
SamplesNA19181, NA19189, HGDP00467, NA19113
Known GenesOR4C12
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)nsv428254
Frequency
Sample Size62
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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