A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27883



Internal ID15496881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28589152..28614825hg38UCSC Ensembl
Outerchr16:28588506..28615367hg38UCSC Ensembl
Innerchr16:28600473..28626146hg19UCSC Ensembl
Outerchr16:28599827..28626688hg19UCSC Ensembl
Innerchr16:28507974..28533647hg18UCSC Ensembl
Outerchr16:28507328..28534189hg18UCSC Ensembl
Innerchr16:28507974..28533647hg17UCSC Ensembl
Outerchr16:28507328..28534189hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3826862
hg1926862
hg1826862
hg1726862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9416
Supporting Variants
SamplesNA19221
Known GenesCCDC101, SULT1A1, SULT1A2
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)nssv27883
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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