A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9461



Internal ID15500687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75502225..75542284hg38UCSC Ensembl
Outerchr16:75536123..75576182hg19UCSC Ensembl
Outerchr16:74093624..74133683hg18UCSC Ensembl
Outerchr16:74093624..74133683hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3840060
hg1940060
hg1840060
hg1740060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27063
SamplesNA18860
Known GenesCHST5, TMEM231
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)nsv9461
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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