A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21192



Internal ID15832598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48869030..48990815hg19UCSC Ensembl
Outerchr10:48868586..48991327hg19UCSC Ensembl
Innerchr10:48489036..48610821hg18UCSC Ensembl
Outerchr10:48488592..48611333hg18UCSC Ensembl
Innerchr10:48489036..48610821hg17UCSC Ensembl
Outerchr10:48488592..48611333hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19122742
hg18122742
hg17122742
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)nssv21192
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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