A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11523



Internal ID15481438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125248778..125632597hg38UCSC Ensembl
Outerchr3:125073408..125703762hg38UCSC Ensembl
Innerchr3:124967622..125351441hg19UCSC Ensembl
Outerchr3:124792252..125422606hg19UCSC Ensembl
Innerchr3:126450312..126834131hg18UCSC Ensembl
Outerchr3:126274942..126905296hg18UCSC Ensembl
Innerchr3:126450312..126834131hg17UCSC Ensembl
Outerchr3:126274942..126905304hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38630355
hg19630355
hg18630355
hg17630363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10311
Supporting Variants
SamplesNA07048
Known GenesMIR5092, OSBPL11, SLC12A8, SNX4, ZNF148
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)nssv11523
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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