A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428262



Internal ID18278026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71652593..72093009hg38UCSC Ensembl
Innerchr11:71363639..71804055hg19UCSC Ensembl
Innerchr11:71041287..71481703hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38440417
hg19440417
hg18440417
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452134, nssv452135
SamplesHGDP01089, NA19113
Known GenesALG1L9P, DEFB108B, FAM86C1, IL18BP, LOC100128494, LOC100129216, LOC100133315, LRTOMT, MIR3165, NUMA1, RNF121, ZNF705E
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)nsv428262
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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