A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26794



Internal ID15491703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29451817..29475269hg38UCSC Ensembl
Outerchr16:29451197..29477050hg38UCSC Ensembl
Innerchr16:29463138..29486590hg19UCSC Ensembl
Outerchr16:29462518..29488371hg19UCSC Ensembl
Innerchr16:29370639..29394091hg18UCSC Ensembl
Outerchr16:29370019..29395872hg18UCSC Ensembl
Innerchr16:29370639..29394091hg17UCSC Ensembl
Outerchr16:29370019..29395872hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3825854
hg1925854
hg1825854
hg1725854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9426
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)nssv26794
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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