A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9598



Internal ID15847510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81324578..81329291hg38UCSC Ensembl
Outerchr17:79298378..79303091hg19UCSC Ensembl
Outerchr17:76912973..76917686hg18UCSC Ensembl
Outerchr17:76912973..76917686hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384714
hg194714
hg184714
hg174714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23820
SamplesNA10863
Known GenesTMEM105
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)nsv9598
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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