A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24558



Internal ID15841918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19843602..19851485hg38UCSC Ensembl
Outerchr14:19843023..19857117hg38UCSC Ensembl
Innerchr14:20311761..20319644hg19UCSC Ensembl
Outerchr14:20311182..20325276hg19UCSC Ensembl
Innerchr14:19381601..19389484hg18UCSC Ensembl
Outerchr14:19381022..19395116hg18UCSC Ensembl
Innerchr14:19381601..19389484hg17UCSC Ensembl
Outerchr14:19381022..19395116hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3814095
hg1914095
hg1814095
hg1714095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19132
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)nssv24558
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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