A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28859



Internal ID15481003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112187039..112332668hg38UCSC Ensembl
Outerchr3:112185127..112368839hg38UCSC Ensembl
Innerchr3:111905886..112051515hg19UCSC Ensembl
Outerchr3:111903974..112087686hg19UCSC Ensembl
Innerchr3:113388576..113534205hg18UCSC Ensembl
Outerchr3:113386664..113570376hg18UCSC Ensembl
Innerchr3:113388576..113534205hg17UCSC Ensembl
Outerchr3:113386664..113570376hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38183713
hg19183713
hg18183713
hg17183713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10307
Supporting Variants
SamplesNA07029
Known GenesCD200, SLC9C1
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)nssv28859
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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