A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26477



Internal ID15486374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29449852..29477067hg38UCSC Ensembl
Outerchr16:29449296..29477726hg38UCSC Ensembl
Innerchr16:29461173..29488388hg19UCSC Ensembl
Outerchr16:29460617..29489047hg19UCSC Ensembl
Innerchr16:29368674..29395889hg18UCSC Ensembl
Outerchr16:29368118..29396548hg18UCSC Ensembl
Innerchr16:29368674..29395889hg17UCSC 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 StatusS
Merged Variantsnsv9426
Supporting Variants
SamplesNA18502
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)nssv26477
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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