A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25088



Internal ID15483817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72056681..72061786hg38UCSC Ensembl
Outerchr16:72056256..72062232hg38UCSC Ensembl
Innerchr16:72090580..72095685hg19UCSC Ensembl
Outerchr16:72090155..72096131hg19UCSC Ensembl
Innerchr16:70648081..70653186hg18UCSC Ensembl
Outerchr16:70647656..70653632hg18UCSC Ensembl
Innerchr16:70648081..70653186hg17UCSC Ensembl
Outerchr16:70647656..70653632hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385977
hg195977
hg185977
hg175977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9456
Supporting Variants
SamplesNA12155
Known GenesHP
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)nssv25088
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