A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28057



Internal ID15832964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:34899334..34902097hg38UCSC Ensembl
Outerchr22:34898394..34903793hg38UCSC Ensembl
Innerchr22:35295325..35298088hg19UCSC Ensembl
Outerchr22:35294385..35299784hg19UCSC Ensembl
Innerchr22:33625325..33628088hg18UCSC Ensembl
Outerchr22:33624385..33629784hg18UCSC Ensembl
Innerchr22:33619879..33622642hg17UCSC Ensembl
Outerchr22:33618939..33624338hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385400
hg195400
hg185400
hg175400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9898
Supporting Variants
SamplesNA18502
Known Genes
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)nssv28057
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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