A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20996



Internal ID15841193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19730805..19956445hg38UCSC Ensembl
Outerchr14:19723662..19957242hg38UCSC Ensembl
Innerchr14:20198964..20424604hg19UCSC Ensembl
Outerchr14:20191821..20425401hg19UCSC Ensembl
Innerchr14:19268804..19494444hg18UCSC Ensembl
Outerchr14:19261661..19495241hg18UCSC Ensembl
Innerchr14:19268804..19494444hg17UCSC Ensembl
Outerchr14:19261661..19495241hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38233581
hg19233581
hg18233581
hg17233581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19007
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)nssv20996
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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