A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453188



Internal ID18273410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33572456..33746539hg38UCSC Ensembl
Innerchr16:33374923..33549006hg19UCSC Ensembl
Innerchr16:33282424..33456507hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38174084
hg19174084
hg18174084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428325
Supporting Variants
SamplesHGDP00467
Known GenesRNU6-76P
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)nssv453188
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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