A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11929



Internal ID15837105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467944..470475hg38UCSC Ensembl
Outerchr5:467313..471102hg38UCSC Ensembl
Innerchr5:468059..470590hg19UCSC Ensembl
Outerchr5:467428..471217hg19UCSC Ensembl
Innerchr5:521059..523590hg18UCSC Ensembl
Outerchr5:520428..524217hg18UCSC Ensembl
Innerchr5:521059..523590hg17UCSC Ensembl
Outerchr5:520428..524217hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383790
hg193790
hg183790
hg173790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10647
Supporting Variants
SamplesNA18572
Known GenesPP7080
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)nssv11929
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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