A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428317



Internal ID18278081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1550716..1711581hg38UCSC Ensembl
Innerchr16:1600717..1761582hg19UCSC Ensembl
Innerchr16:1540718..1701583hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38160866
hg19160866
hg18160866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452892
SamplesNA18916
Known GenesCRAMP1L, HN1L, IFT140, MAPK8IP3, TMEM204
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)nsv428317
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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