A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24523



Internal ID15489273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1249869..1251848hg38UCSC Ensembl
Outerchr19:1248726..1252386hg38UCSC Ensembl
Innerchr19:1249868..1251847hg19UCSC Ensembl
Outerchr19:1248725..1252385hg19UCSC Ensembl
Innerchr19:1200868..1202847hg18UCSC Ensembl
Outerchr19:1199725..1203385hg18UCSC Ensembl
Innerchr19:1200868..1202847hg17UCSC Ensembl
Outerchr19:1199725..1203385hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383661
hg193661
hg183661
hg173661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9662
Supporting Variants
SamplesNA18563
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)nssv24523
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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