A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378



Internal ID15484162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70472354..71004948hg38UCSC Ensembl
Outerchr5:70471771..71005531hg38UCSC Ensembl
Innerchr5:69768181..70300775hg19UCSC Ensembl
Outerchr5:69767598..70301358hg19UCSC Ensembl
Innerchr5:69803937..70336531hg18UCSC Ensembl
Outerchr5:69803354..70337114hg18UCSC Ensembl
Innerchr5:69803937..70336531hg17UCSC Ensembl
Outerchr5:69803354..70337114hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38533761
hg19533761
hg18533761
hg17533761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12155
Known GenesGUSBP9, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, 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)nssv14378
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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