A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22133



Internal ID15839540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47468733..47483555hg38UCSC Ensembl
Outerchr10:47468110..47483796hg38UCSC Ensembl
Innerchr10:48255807..48270629hg19UCSC Ensembl
Outerchr10:48255566..48271252hg19UCSC Ensembl
Innerchr10:47875813..47890635hg18UCSC Ensembl
Outerchr10:47875572..47891258hg18UCSC Ensembl
Innerchr10:47875813..47890635hg17UCSC Ensembl
Outerchr10:47875572..47891258hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3815687
hg1915687
hg1815687
hg1715687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18972
Known GenesANXA8
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)nssv22133
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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