A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13135



Internal ID15840885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467313..471102hg38UCSC Ensembl
Outerchr5:466547..471931hg38UCSC Ensembl
Innerchr5:467428..471217hg19UCSC Ensembl
Outerchr5:466662..472046hg19UCSC Ensembl
Innerchr5:520428..524217hg18UCSC Ensembl
Outerchr5:519662..525046hg18UCSC Ensembl
Innerchr5:520428..524217hg17UCSC Ensembl
Outerchr5:519662..525046hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385385
hg195385
hg185385
hg175385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10647
Supporting Variants
SamplesNA18980
Known GenesEXOC3, PP7080
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)nssv13135
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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