A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26536



Internal ID15488091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24609042..24660516hg38UCSC Ensembl
Outerchr22:24604753..24662249hg38UCSC Ensembl
Innerchr22:25005009..25056483hg19UCSC Ensembl
Outerchr22:25000720..25058216hg19UCSC Ensembl
Innerchr22:23335009..23386483hg18UCSC Ensembl
Outerchr22:23330720..23388216hg18UCSC Ensembl
Innerchr22:23329563..23381037hg17UCSC Ensembl
Outerchr22:23325274..23382770hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3857497
hg1957497
hg1857497
hg1757497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9884
Supporting Variants
SamplesNA18537
Known GenesBCRP3, GGT1, POM121L10P
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)nssv26536
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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