A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348



Internal ID15484169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69617219..70409763hg38UCSC Ensembl
Outerchr5:69616636..70410056hg38UCSC Ensembl
Innerchr5:68913046..69705590hg19UCSC Ensembl
Outerchr5:68912463..69705883hg19UCSC Ensembl
Innerchr5:68948802..69741346hg18UCSC Ensembl
Outerchr5:68948219..69741639hg18UCSC Ensembl
Innerchr5:68948802..69741346hg17UCSC Ensembl
Outerchr5:68948219..69741639hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38793421
hg19793421
hg18793421
hg17793421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12155
Known GenesGUSBP3, GUSBP9, LOC100272216, SERF1A, SERF1B, SMA4, SMN1, SMN2
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)nssv14348
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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