A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28768



Internal ID15497163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739537..44740088hg38UCSC Ensembl
Outerchr22:44738952..44740929hg38UCSC Ensembl
Innerchr22:45135417..45135968hg19UCSC Ensembl
Outerchr22:45134832..45136809hg19UCSC Ensembl
Innerchr22:43514081..43514632hg18UCSC Ensembl
Outerchr22:43513496..43515473hg18UCSC Ensembl
Innerchr22:43455954..43456505hg17UCSC Ensembl
Outerchr22:43455369..43457346hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381978
hg191978
hg181978
hg171978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9918
Supporting Variants
SamplesNA19221
Known GenesPRR5-ARHGAP8
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)nssv28768
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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