A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13959



Internal ID15484380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69895275..69916077hg38UCSC Ensembl
Outerchr5:69894925..69916433hg38UCSC Ensembl
Innerchr5:69191102..69211904hg19UCSC Ensembl
Outerchr5:69190752..69212260hg19UCSC Ensembl
Innerchr5:69226858..69247660hg18UCSC Ensembl
Outerchr5:69226508..69248016hg18UCSC Ensembl
Innerchr5:69226858..69247660hg17UCSC Ensembl
Outerchr5:69226508..69248016hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821509
hg1921509
hg1821509
hg1721509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesGUSBP9, SMA4
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)nssv13959
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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