A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22853



Internal ID15842256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:41002861..41016069hg38UCSC Ensembl
Outerchr14:41002420..41017129hg38UCSC Ensembl
Innerchr14:41472066..41485274hg19UCSC Ensembl
Outerchr14:41471625..41486334hg19UCSC Ensembl
Innerchr14:40541816..40555024hg18UCSC Ensembl
Outerchr14:40541375..40556084hg18UCSC Ensembl
Innerchr14:40541816..40555024hg17UCSC Ensembl
Outerchr14:40541375..40556084hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3814710
hg1914710
hg1814710
hg1714710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9137
Supporting Variants
SamplesNA19144
Known GenesLOC644919
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)nssv22853
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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