A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21971



Internal ID15485623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:23035789..23038337hg38UCSC Ensembl
Outerchr19:23016322..23038883hg38UCSC Ensembl
Innerchr19:23218591..23221139hg19UCSC Ensembl
Outerchr19:23199124..23221685hg19UCSC Ensembl
Innerchr19:23010431..23012979hg18UCSC Ensembl
Outerchr19:22990964..23013525hg18UCSC Ensembl
Innerchr19:23010431..23012979hg17UCSC Ensembl
Outerchr19:22990964..23013525hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3822562
hg1922562
hg1822562
hg1722562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9686
Supporting Variants
SamplesNA12872
Known Genes
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)nssv21971
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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