A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9595



Internal ID15847507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79914080..79916403hg38UCSC Ensembl
Outerchr17:77887879..77890202hg19UCSC Ensembl
Outerchr17:75502474..75504797hg18UCSC Ensembl
Outerchr17:75502474..75504797hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382324
hg192324
hg182324
hg172324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24859
SamplesNA12740
Known Genes
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)nsv9595
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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