A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27170



Internal ID15486356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47695197..47698963hg38UCSC Ensembl
Outerchr17:47693507..47702425hg38UCSC Ensembl
Innerchr17:45772563..45776329hg19UCSC Ensembl
Outerchr17:45770873..45779791hg19UCSC Ensembl
Innerchr17:43127562..43131328hg18UCSC Ensembl
Outerchr17:43125872..43134790hg18UCSC Ensembl
Innerchr17:43127562..43131328hg17UCSC Ensembl
Outerchr17:43125872..43134790hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg388919
hg198919
hg188919
hg178919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9570
Supporting Variants
SamplesNA18502
Known GenesTBKBP1
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)nssv27170
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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