A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11991



Internal ID15491714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47803213..47803862hg38UCSC Ensembl
Outerchr3:47802706..47804088hg38UCSC Ensembl
Innerchr3:47844703..47845352hg19UCSC Ensembl
Outerchr3:47844196..47845578hg19UCSC Ensembl
Innerchr3:47819707..47820356hg18UCSC Ensembl
Outerchr3:47819200..47820582hg18UCSC Ensembl
Innerchr3:47819707..47820356hg17UCSC Ensembl
Outerchr3:47819200..47820582hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
hg171383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10270
Supporting Variants
SamplesNA18860
Known GenesDHX30
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)nssv11991
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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