A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21431



Internal ID15485474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:817315..823710hg38UCSC Ensembl
Outerchr1:816507..824410hg38UCSC Ensembl
Innerchr1:752695..759090hg19UCSC Ensembl
Outerchr1:751887..759790hg19UCSC Ensembl
Innerchr1:742558..748953hg18UCSC Ensembl
Outerchr1:741750..749653hg18UCSC Ensembl
Innerchr1:792558..798953hg17UCSC Ensembl
Outerchr1:791750..799653hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387904
hg197904
hg187904
hg177904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA12872
Known GenesFAM87B
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)nssv21431
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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