A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453256



Internal ID18273519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69952660..70279319hg38UCSC Ensembl
Innerchr16:69986563..70313222hg19UCSC Ensembl
Innerchr16:68544064..68870723hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38326660
hg19326660
hg18326660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428328
Supporting Variants
SamplesHGDP00471
Known GenesAARS, CLEC18A, CLEC18C, EXOSC6, LOC100506060, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)nssv453256
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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