A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28498



Internal ID15497592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39825635..39906277hg38UCSC Ensembl
Outerchr19:39824879..39906616hg38UCSC Ensembl
Innerchr19:40316275..40412184hg19UCSC Ensembl
Outerchr19:40315519..40412523hg19UCSC Ensembl
Innerchr19:45008115..45104024hg18UCSC Ensembl
Outerchr19:45007359..45104363hg18UCSC Ensembl
Innerchr19:45008115..45104024hg17UCSC Ensembl
Outerchr19:45007359..45104363hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3881738
hg1997005
hg1897005
hg1797005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9725
Supporting Variants
SamplesNA19221
Known GenesDYRK1B, FBL, FCGBP, MIR6719
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)nssv28498
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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