A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428318



Internal ID18278082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5011594..5374828hg38UCSC Ensembl
Innerchr16:5061595..5424829hg19UCSC Ensembl
Innerchr16:5001596..5364830hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38363235
hg19363235
hg18363235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452902
SamplesNA19113
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
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)nsv428318
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer