A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24948



Internal ID15837997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18591020..19169707hg38UCSC Ensembl
Outerchr14:18590966..19169707hg38UCSC Ensembl
Innerchr14:19367497..19765419hg19UCSC Ensembl
Outerchr14:19367443..19765888hg19UCSC Ensembl
Innerchr14:18437497..18835419hg18UCSC Ensembl
Outerchr14:18437443..18835888hg18UCSC Ensembl
Innerchr14:18437497..18835419hg17UCSC Ensembl
Outerchr14:18437443..18835888hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38578742
hg19398446
hg18398446
hg17398446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18860
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
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)nssv24948
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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