A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23032



Internal ID15482055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30191159..30196241hg38UCSC Ensembl
Outerchr16:30190539..30196663hg38UCSC Ensembl
Innerchr16:30202480..30207562hg19UCSC Ensembl
Outerchr16:30201860..30207984hg19UCSC Ensembl
Innerchr16:30109981..30115063hg18UCSC Ensembl
Outerchr16:30109361..30115485hg18UCSC Ensembl
Innerchr16:30109981..30115063hg17UCSC Ensembl
Outerchr16:30109361..30115485hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386125
hg196125
hg186125
hg176125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9431
Supporting Variants
SamplesNA10839
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-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)nssv23032
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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