A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23423



Internal ID15496215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14703490..14704993hg38UCSC Ensembl
Outerchr16:14702879..14707053hg38UCSC Ensembl
Innerchr16:14797347..14798850hg19UCSC Ensembl
Outerchr16:14796736..14800910hg19UCSC Ensembl
Innerchr16:14704848..14706351hg18UCSC Ensembl
Outerchr16:14704237..14708411hg18UCSC Ensembl
Innerchr16:14704848..14706351hg17UCSC Ensembl
Outerchr16:14704237..14708411hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg384175
hg194175
hg184175
hg174175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9353
Supporting Variants
SamplesNA19173
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv23423
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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