A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22824



Internal ID15842258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:32484319..32484792hg38UCSC Ensembl
Outerchr14:32483317..32489574hg38UCSC Ensembl
Innerchr14:32953525..32953998hg19UCSC Ensembl
Outerchr14:32952523..32958780hg19UCSC Ensembl
Innerchr14:32023276..32023749hg18UCSC Ensembl
Outerchr14:32022274..32028531hg18UCSC Ensembl
Innerchr14:32023276..32023749hg17UCSC Ensembl
Outerchr14:32022274..32028531hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386258
hg196258
hg186258
hg176258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9130
Supporting Variants
SamplesNA19144
Known GenesAKAP6
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)nssv22824
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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