A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24532



Internal ID15842089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19490857..19722777hg38UCSC Ensembl
Outerchr14:19489390..19723662hg38UCSC Ensembl
Innerchr14:20076610..20190936hg19UCSC Ensembl
Outerchr14:20075143..20191821hg19UCSC Ensembl
Innerchr14:19146610..19260776hg18UCSC Ensembl
Outerchr14:19145143..19261661hg18UCSC Ensembl
Innerchr14:19146610..19260776hg17UCSC Ensembl
Outerchr14:19145143..19261661hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38234273
hg19116679
hg18116519
hg17116519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19132
Known GenesOR11H2
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)nssv24532
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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