A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27787



Internal ID15838117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44389121..44434717hg38UCSC Ensembl
Outerchr19:44388599..44435840hg38UCSC Ensembl
Innerchr19:44893284..44938892hg19UCSC Ensembl
Outerchr19:44892761..44940023hg19UCSC Ensembl
Innerchr19:49585124..49630732hg18UCSC Ensembl
Outerchr19:49584601..49631863hg18UCSC Ensembl
Innerchr19:49585124..49630732hg17UCSC Ensembl
Outerchr19:49584601..49631863hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3847242
hg1947263
hg1847263
hg1747263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9734
Supporting Variants
SamplesNA18860
Known GenesZNF229, ZNF285
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)nssv27787
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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