A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19125



Internal ID15834809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47550402..47550458hg38UCSC Ensembl
Outerchr10:47549634..47550597hg38UCSC Ensembl
Innerchr10:48949420..48949476hg19UCSC Ensembl
Outerchr10:48948650..48949615hg19UCSC Ensembl
Innerchr10:48569426..48569482hg18UCSC Ensembl
Outerchr10:48568656..48569621hg18UCSC Ensembl
Innerchr10:48569426..48569482hg17UCSC Ensembl
Outerchr10:48568656..48569621hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38964
hg19966
hg18966
hg17966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18537
Known GenesBMS1P1, BMS1P5
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)nssv19125
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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