A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21436



Internal ID15488861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1689659..1753036hg38UCSC Ensembl
Outerchr1:1689245..1753637hg38UCSC Ensembl
Innerchr1:1621098..1684475hg19UCSC Ensembl
Outerchr1:1620684..1685076hg19UCSC Ensembl
Innerchr1:1610958..1674335hg18UCSC Ensembl
Outerchr1:1610544..1674936hg18UCSC Ensembl
Innerchr1:1653260..1716637hg17UCSC Ensembl
Outerchr1:1652846..1717238hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3864393
hg1964393
hg1864393
hg1764393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18552
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2, SLC35E2B
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)nssv21436
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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