A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25207



Internal ID15494524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43215019..43258864hg38UCSC Ensembl
Outerchr19:43212049..43259294hg38UCSC Ensembl
Innerchr19:43719171..43763016hg19UCSC Ensembl
Outerchr19:43716201..43763446hg19UCSC Ensembl
Innerchr19:48411011..48454856hg18UCSC Ensembl
Outerchr19:48408041..48455286hg18UCSC Ensembl
Innerchr19:48411011..48454856hg17UCSC Ensembl
Outerchr19:48408041..48455286hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3847246
hg1947246
hg1847246
hg1747246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA19007
Known GenesLOC284344, PSG9
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)nssv25207
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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