A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453034



Internal ID18274841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22584770..22760988hg38UCSC Ensembl
Innerchr16:22596091..22772309hg19UCSC Ensembl
Innerchr16:22503592..22679810hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38176219
hg19176219
hg18176219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428324
Supporting Variants
SamplesNA19113
Known GenesMIR548AA2, MIR548D2
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)nssv453034
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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