A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27877



Internal ID15832539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15637018..15815381hg38UCSC Ensembl
Outerchr22:15636759..15816370hg38UCSC Ensembl
Innerchr22:16162582..16340945hg19UCSC Ensembl
Outerchr22:16161593..16341204hg19UCSC Ensembl
Innerchr22:14542582..14720945hg18UCSC Ensembl
Outerchr22:14541593..14721204hg18UCSC Ensembl
Innerchr22:14542582..14715499hg17UCSC Ensembl
Outerchr22:14541593..14715758hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38179612
hg19179612
hg18179612
hg17174166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA18502
Known GenesBMS1P17, BMS1P18, POTEH
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)nssv27877
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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