A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9838



Internal ID15501064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10384900..10492488hg38UCSC Ensembl
Outerchr21:11019969..11127557hg19UCSC Ensembl
Outerchr21:10041840..10149428hg18UCSC Ensembl
Outerchr21:10041840..10149428hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38107589
hg19107589
hg18107589
hg17107589
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27976, nssv27772, nssv27981, nssv25764, nssv27765, nssv25796, nssv25249, nssv24984, nssv24959, nssv27198, nssv26250, nssv28684, nssv27849, nssv26989
SamplesNA18502, NA11830, NA18980, NA12155, NA18860, NA07048, NA19221, NA18517, NA19240, NA19173, NA18552
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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)nsv9838
Frequency
Sample Size31
Observed Gain5
Observed Loss7
Observed Complex0
Frequencyn/a


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