A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428245



Internal ID18278009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3215282..3398350hg38UCSC Ensembl
Innerchr11:3236512..3419580hg19UCSC Ensembl
Innerchr11:3193088..3376156hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38183069
hg19183069
hg18183069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452022, nssv452021, nssv452018
SamplesHGDP00462, NA19257, NA19108
Known GenesLOC650368, MRGPRE, MRGPRG, MRGPRG-AS1, OR7E12P, ZNF195
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)nsv428245
Frequency
Sample Size62
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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