A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28454



Internal ID15497338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15112622..15125898hg38UCSC Ensembl
Outerchr19:15112196..15126716hg38UCSC Ensembl
Innerchr19:15223433..15236709hg19UCSC Ensembl
Outerchr19:15223007..15237527hg19UCSC Ensembl
Innerchr19:15084433..15097709hg18UCSC Ensembl
Outerchr19:15084007..15098527hg18UCSC Ensembl
Innerchr19:15084433..15097709hg17UCSC Ensembl
Outerchr19:15084007..15098527hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3814521
hg1914521
hg1814521
hg1714521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9668
Supporting Variants
SamplesNA19221
Known GenesILVBL, SYDE1
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)nssv28454
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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