A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9490



Internal ID8814384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1653428..1828993hg38UCSC Ensembl
Outerchr17:1556722..1732287hg19UCSC Ensembl
Outerchr17:1503472..1679037hg18UCSC Ensembl
Outerchr17:1503472..1679037hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38175566
hg19175566
hg18175566
hg17175566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23918
SamplesNA18980
Known GenesMIR22, MIR22HG, PRPF8, SERPINF1, SERPINF2, SMYD4, TLCD2, WDR81
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)nsv9490
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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