A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453006



Internal ID18274871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21489241..21780161hg38UCSC Ensembl
Innerchr16:21500562..21791482hg19UCSC Ensembl
Innerchr16:21408063..21698983hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38290921
hg19290921
hg18290921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428322
Supporting Variants
SamplesNA19113
Known GenesIGSF6, LOC100271836, METTL9, OTOA, SLC7A5P2
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)nssv453006
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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