A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27794



Internal ID15838093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51600607..51602867hg38UCSC Ensembl
Outerchr19:51599845..51603768hg38UCSC Ensembl
Innerchr19:52103860..52106120hg19UCSC Ensembl
Outerchr19:52103098..52107021hg19UCSC Ensembl
Innerchr19:56795672..56797932hg18UCSC Ensembl
Outerchr19:56794910..56798833hg18UCSC Ensembl
Innerchr19:56795672..56797932hg17UCSC Ensembl
Outerchr19:56794910..56798833hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383924
hg193924
hg183924
hg173924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9740
Supporting Variants
SamplesNA18860
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)nssv27794
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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