A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9490



Internal ID5110517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1556722..1732287hg19UCSC Ensembl
Outerchr17:1503472..1679037hg18UCSC Ensembl
Outerchr17:1503472..1679037hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count2
Merged StatusS
Merged Variants
Supporting Variantsnssv23918
SamplesNA18980
Known GenesMIR22, MIR22HG, PRPF8, SERPINF1, SERPINF2, SMYD4, TLCD2, WDR81
Method
AnalysisCNV regions were defined on the basis of the union of all overlapping CNVs across all 30 HapMap individuals (An additional CNV region, that was not listed in the original published dataset, has been defined to represent variant 311 in sample NA18563).
PlatformAgilent-015685 + 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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