A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28767



Internal ID15843848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44224909..44235701hg38UCSC Ensembl
Outerchr22:44203629..44243208hg38UCSC Ensembl
Innerchr22:44620789..44631581hg19UCSC Ensembl
Outerchr22:44599509..44639088hg19UCSC Ensembl
Innerchr22:42952122..42962914hg18UCSC Ensembl
Outerchr22:42930842..42970421hg18UCSC Ensembl
Innerchr22:42945690..42956482hg17UCSC Ensembl
Outerchr22:42924410..42963989hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3839580
hg1939580
hg1839580
hg1739580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9915
Supporting Variants
SamplesNA19221
Known GenesPARVG
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)nssv28767
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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