A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18415



Internal ID15840645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46765068..46802611hg38UCSC Ensembl
Outerchr10:46759137..46802975hg38UCSC Ensembl
Innerchr10:46746982..46784542hg19UCSC Ensembl
Outerchr10:46746618..46790467hg19UCSC Ensembl
Innerchr10:46166988..46204548hg18UCSC Ensembl
Outerchr10:46166624..46210473hg18UCSC Ensembl
Innerchr10:46166988..46204548hg17UCSC Ensembl
Outerchr10:46166624..46210473hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3843839
hg1943850
hg1843850
hg1743850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18980
Known GenesBMS1P1, BMS1P5, GLUD1P7
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)nssv18415
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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