A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453257



Internal ID18274930
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428328
Supporting Variants
SamplesNA19113
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)nssv453257
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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