A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26805



Internal ID15491704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30191159..30214613hg38UCSC Ensembl
Outerchr16:30190539..30216391hg38UCSC Ensembl
Innerchr16:30202480..30225934hg19UCSC Ensembl
Outerchr16:30201860..30227712hg19UCSC Ensembl
Innerchr16:30109981..30133435hg18UCSC Ensembl
Outerchr16:30109361..30135213hg18UCSC Ensembl
Innerchr16:30109981..30133435hg17UCSC Ensembl
Outerchr16:30109361..30135213hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3825853
hg1925853
hg1825853
hg1725853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9431
Supporting Variants
SamplesNA18860
Known GenesBOLA2, BOLA2B, LOC388242, 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)nssv26805
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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