A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23190



Internal ID15492030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59032929..59040648hg38UCSC Ensembl
Outerchr17:59032062..59041378hg38UCSC Ensembl
Innerchr17:57110290..57118009hg19UCSC Ensembl
Outerchr17:57109423..57118739hg19UCSC Ensembl
Innerchr17:54465072..54472791hg18UCSC Ensembl
Outerchr17:54464205..54473521hg18UCSC Ensembl
Innerchr17:54465072..54472791hg17UCSC Ensembl
Outerchr17:54464205..54473521hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389317
hg199317
hg189317
hg179317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9574
Supporting Variants
SamplesNA18942
Known GenesTRIM37
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)nssv23190
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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