A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21142



Internal ID15492106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28609812..28610911hg38UCSC Ensembl
Outerchr16:28609374..28612625hg38UCSC Ensembl
Innerchr16:28621133..28622232hg19UCSC Ensembl
Outerchr16:28620695..28623946hg19UCSC Ensembl
Innerchr16:28528634..28529733hg18UCSC Ensembl
Outerchr16:28528196..28531447hg18UCSC Ensembl
Innerchr16:28528634..28529733hg17UCSC Ensembl
Outerchr16:28528196..28531447hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383252
hg193252
hg183252
hg173252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9416
Supporting Variants
SamplesNA18942
Known GenesSULT1A1
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)nssv21142
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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