A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25242



Internal ID15483320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1249869..1251198hg38UCSC Ensembl
Outerchr19:1248726..1251848hg38UCSC Ensembl
Innerchr19:1249868..1251197hg19UCSC Ensembl
Outerchr19:1248725..1251847hg19UCSC Ensembl
Innerchr19:1200868..1202197hg18UCSC Ensembl
Outerchr19:1199725..1202847hg18UCSC Ensembl
Innerchr19:1200868..1202197hg17UCSC Ensembl
Outerchr19:1199725..1202847hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383123
hg193123
hg183123
hg173123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9662
Supporting Variants
SamplesNA11830
Known GenesMIDN
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)nssv25242
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