A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452134



Internal ID18274908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71652593..71946530hg38UCSC Ensembl
Innerchr11:71363639..71657576hg19UCSC Ensembl
Innerchr11:71041287..71335224hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38293938
hg19293938
hg18293938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428262
Supporting Variants
SamplesNA19113
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, 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)nssv452134
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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