A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428328



Internal ID18278092
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453256, nssv453257
SamplesNA19113, HGDP00471
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)nsv428328
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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