A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19331



Internal ID15832130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19063746..19092818hg38UCSC Ensembl
Outerchr14:19062537..19093171hg38UCSC Ensembl
Innerchr14:19651406..19680497hg19UCSC Ensembl
Outerchr14:19650197..19680850hg19UCSC Ensembl
Innerchr14:18721406..18750497hg18UCSC Ensembl
Outerchr14:18720197..18750850hg18UCSC Ensembl
Innerchr14:18721406..18750497hg17UCSC Ensembl
Outerchr14:18720197..18750850hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3830635
hg1930654
hg1830654
hg1730654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12872
Known GenesBMS1P17, BMS1P18
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)nssv19331
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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