A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28852



Internal ID15840735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50876025..50876046hg38UCSC Ensembl
Outerchr3:50875996..50876083hg38UCSC Ensembl
Innerchr3:50913456..50913477hg19UCSC Ensembl
Outerchr3:50913427..50913514hg19UCSC Ensembl
Innerchr3:50888474..50888495hg18UCSC Ensembl
Outerchr3:50888445..50888532hg18UCSC Ensembl
Innerchr3:50888474..50888495hg17UCSC Ensembl
Outerchr3:50888445..50888532hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
hg1788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10271
Supporting Variants
SamplesNA18980
Known GenesDOCK3
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)nssv28852
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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