A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28253



Internal ID15493162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224172682..224192307hg38UCSC Ensembl
Outerchr1:224172241..224195321hg38UCSC Ensembl
Innerchr1:224360384..224380009hg19UCSC Ensembl
Outerchr1:224359943..224383023hg19UCSC Ensembl
Innerchr1:222427007..222446632hg18UCSC Ensembl
Outerchr1:222426566..222449646hg18UCSC Ensembl
Innerchr1:220667119..220686744hg17UCSC Ensembl
Outerchr1:220666678..220689758hg17UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3823081
hg1923081
hg1823081
hg1723081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8857
Supporting Variants
SamplesNA18972
Known GenesDEGS1
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)nssv28253
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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