A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452891



Internal ID18275294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1165594..1363252hg38UCSC Ensembl
Innerchr16:1215594..1413253hg19UCSC Ensembl
Innerchr16:1155595..1353254hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38197659
hg19197660
hg18197660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428316
Supporting Variants
SamplesNA19257
Known GenesBAIAP3, CACNA1H, GNPTG, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL
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)nssv452891
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