A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9426



Internal ID15500652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29449296..29477726hg38UCSC Ensembl
Outerchr16:29460617..29489047hg19UCSC Ensembl
Outerchr16:29368118..29396548hg18UCSC Ensembl
Outerchr16:29368118..29396548hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3828431
hg1928431
hg1828431
hg1728431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23420, nssv27901, nssv26477, nssv26794
SamplesNA18860, NA18502, NA19221, NA19007
Known GenesBOLA2, BOLA2B, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
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)nsv9426
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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