A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22981



Internal ID15485790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37746200..37746989hg38UCSC Ensembl
Outerchr22:37745564..37748013hg38UCSC Ensembl
Innerchr22:38142207..38142996hg19UCSC Ensembl
Outerchr22:38141571..38144020hg19UCSC Ensembl
Innerchr22:36472153..36472942hg18UCSC Ensembl
Outerchr22:36471517..36473966hg18UCSC Ensembl
Innerchr22:36466707..36467496hg17UCSC Ensembl
Outerchr22:36466071..36468520hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382450
hg192450
hg182450
hg172450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9904
Supporting Variants
SamplesNA12872
Known GenesTRIOBP
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)nssv22981
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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