A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10383



Internal ID15498660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1915176..1928442hg38UCSC Ensembl
Outerchr1:1846615..1859881hg19UCSC Ensembl
Outerchr1:1836475..1849741hg18UCSC Ensembl
Outerchr1:1878777..1892043hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3813267
hg1913267
hg1813267
hg1713267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24603
SamplesNA18502
Known GenesCALML6, TMEM52
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)nsv10383
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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