A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26879



Internal ID15482857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1689659..1693298hg38UCSC Ensembl
Outerchr1:1689245..1693655hg38UCSC Ensembl
Innerchr1:1621098..1624737hg19UCSC Ensembl
Outerchr1:1620684..1625094hg19UCSC Ensembl
Innerchr1:1610958..1614597hg18UCSC Ensembl
Outerchr1:1610544..1614954hg18UCSC Ensembl
Innerchr1:1653260..1656899hg17UCSC Ensembl
Outerchr1:1652846..1657256hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384411
hg194411
hg184411
hg174411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA10863
Known GenesCDK11B, 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)nssv26879
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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