A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28993



Internal ID15835624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125919500..125925831hg38UCSC Ensembl
Outerchr3:125919168..125925878hg38UCSC Ensembl
Innerchr3:125638343..125644674hg19UCSC Ensembl
Outerchr3:125638011..125644721hg19UCSC Ensembl
Innerchr3:127121033..127127364hg18UCSC Ensembl
Outerchr3:127120701..127127411hg18UCSC Ensembl
Innerchr3:127121041..127127372hg17UCSC Ensembl
Outerchr3:127120709..127127419hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg386711
hg196711
hg186711
hg176711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10313
Supporting Variants
SamplesNA18552
Known GenesFAM86JP
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)nssv28993
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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