A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26998



Internal ID15844900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54449069..54450046hg38UCSC Ensembl
Outerchr19:54448619..54450434hg38UCSC Ensembl
Innerchr19:54960247..54961224hg19UCSC Ensembl
Outerchr19:54959797..54961612hg19UCSC Ensembl
Innerchr19:59652059..59653036hg18UCSC Ensembl
Outerchr19:59651609..59653424hg18UCSC Ensembl
Innerchr19:59652059..59653036hg17UCSC Ensembl
Outerchr19:59651609..59653424hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381816
hg191816
hg181816
hg171816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9758
Supporting Variants
SamplesNA19240
Known GenesLENG8
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)nssv26998
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