A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28128



Internal ID15491824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24528241..24656735hg38UCSC Ensembl
Outerchr22:24465656..24657121hg38UCSC Ensembl
Innerchr22:24924209..25052702hg19UCSC Ensembl
Outerchr22:24861624..25053088hg19UCSC Ensembl
Innerchr22:23254209..23382702hg18UCSC Ensembl
Outerchr22:23191624..23383088hg18UCSC Ensembl
Innerchr22:23248763..23377256hg17UCSC Ensembl
Outerchr22:23186178..23377642hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38191466
hg19191465
hg18191465
hg17191465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9884
Supporting Variants
SamplesNA18860
Known GenesADORA2A-AS1, BCRP3, FAM211B, GGT1, GUCD1, POM121L10P, SNRPD3, UPB1
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)nssv28128
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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