A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21012



Internal ID15832661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46775379..46870332hg38UCSC Ensembl
Outerchr10:46775334..46870776hg38UCSC Ensembl
Innerchr10:46682129..46774248hg19UCSC Ensembl
Outerchr10:46681685..46774293hg19UCSC Ensembl
Innerchr10:46102135..46194254hg18UCSC Ensembl
Outerchr10:46101691..46194299hg18UCSC Ensembl
Innerchr10:46102135..46194254hg17UCSC Ensembl
Outerchr10:46101691..46194299hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3895443
hg1992609
hg1892609
hg1792609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18502
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)nssv21012
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer