A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17269



Internal ID15837006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47538407..47542108hg38UCSC Ensembl
Outerchr10:47537704..47542247hg38UCSC Ensembl
Innerchr10:48937845..48941135hg19UCSC Ensembl
Outerchr10:48937145..48941274hg19UCSC Ensembl
Innerchr10:48557851..48561141hg18UCSC Ensembl
Outerchr10:48557151..48561280hg18UCSC Ensembl
Innerchr10:48557851..48561141hg17UCSC Ensembl
Outerchr10:48557151..48561280hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384544
hg194130
hg184130
hg174130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18572
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)nssv17269
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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