A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9775



Internal ID15847687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1554339..1583014hg38UCSC Ensembl
Outerchr20:1534985..1563660hg19UCSC Ensembl
Outerchr20:1482985..1511660hg18UCSC Ensembl
Outerchr20:1482985..1511660hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3828676
hg1928676
hg1828676
hg1728676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26414, nssv24514, nssv25887, nssv27652, nssv24969, nssv24702
SamplesNA07048, NA10863, NA18537, NA18517, NA19144, NA18552
Known GenesSIRPB1, SIRPD
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)nsv9775
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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