A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453215



Internal ID18620589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35123392..35535271hg38UCSC Ensembl
Innerchr16:34357763..34769642hg19UCSC Ensembl
Innerchr16:34215264..34627143hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38411880
hg19411880
hg18411880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428326
Supporting Variants
SamplesHGDP00984
Known GenesLOC100130700, LOC146481, LOC283914, UBE2MP1
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)nssv453215
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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