A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27718



Internal ID15497390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15711096..15713974hg38UCSC Ensembl
Outerchr16:15710129..15714679hg38UCSC Ensembl
Innerchr16:15804953..15807831hg19UCSC Ensembl
Outerchr16:15803986..15808536hg19UCSC Ensembl
Innerchr16:15712454..15715332hg18UCSC Ensembl
Outerchr16:15711487..15716037hg18UCSC Ensembl
Innerchr16:15712454..15715332hg17UCSC Ensembl
Outerchr16:15711487..15716037hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg384551
hg194551
hg184551
hg174551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9361
Supporting Variants
SamplesNA19221
Known GenesMYH11, NDE1
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)nssv27718
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