A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28926



Internal ID15484726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10694363..10696140hg38UCSC Ensembl
Outerchr1:10692870..10696710hg38UCSC Ensembl
Innerchr1:10754420..10756197hg19UCSC Ensembl
Outerchr1:10752927..10756767hg19UCSC Ensembl
Innerchr1:10677007..10678784hg18UCSC Ensembl
Outerchr1:10675514..10679354hg18UCSC Ensembl
Innerchr1:10688686..10690463hg17UCSC Ensembl
Outerchr1:10687193..10691033hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383841
hg193841
hg183841
hg173841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8546
Supporting Variants
SamplesNA12740
Known GenesCASZ1
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)nssv28926
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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