A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453092



Internal ID18273847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32088444..32286366hg38UCSC Ensembl
Innerchr16:32099765..32297687hg19UCSC Ensembl
Innerchr16:32007266..32205188hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38197923
hg19197923
hg18197923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428325
Supporting Variants
SamplesHGDP00984
Known GenesHERC2P4, TP53TG3D
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)nssv453092
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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