A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21737



Internal ID15836158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19657987..19658534hg38UCSC Ensembl
Outerchr14:19657971..19659497hg38UCSC Ensembl
Innerchr14:20126146..20126693hg19UCSC Ensembl
Outerchr14:20126130..20127656hg19UCSC Ensembl
Innerchr14:19195986..19196533hg18UCSC Ensembl
Outerchr14:19195970..19197496hg18UCSC Ensembl
Innerchr14:19195986..19196533hg17UCSC Ensembl
Outerchr14:19195970..19197496hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381527
hg191527
hg181527
hg171527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18563
Known Genes
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)nssv21737
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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