A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22281



Internal ID15838266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47546264..47550458hg38UCSC Ensembl
Outerchr10:47545946..47550597hg38UCSC Ensembl
Innerchr10:48945283..48949476hg19UCSC Ensembl
Outerchr10:48944961..48949615hg19UCSC Ensembl
Innerchr10:48565289..48569482hg18UCSC Ensembl
Outerchr10:48564967..48569621hg18UCSC Ensembl
Innerchr10:48565289..48569482hg17UCSC Ensembl
Outerchr10:48564967..48569621hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384652
hg194655
hg184655
hg174655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18860
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)nssv22281
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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