A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453009



Internal ID18274122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21590306..22017793hg38UCSC Ensembl
Innerchr16:21601627..22029114hg19UCSC Ensembl
Innerchr16:21509128..21936615hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38427488
hg19427488
hg18427488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428322
Supporting Variants
SamplesHGDP01088
Known GenesC16orf52, IGSF6, LOC100190986, METTL9, OTOA, PDZD9, RRN3P1, UQCRC2
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)nssv453009
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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