A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453102



Internal ID18273605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32287566..32983269hg38UCSC Ensembl
Innerchr16:32298887..32994590hg19UCSC Ensembl
Innerchr16:32206388..32902091hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38695704
hg19695704
hg18695704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428325
Supporting Variants
SamplesHGDP00473
Known GenesLOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
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)nssv453102
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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