A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465589



Internal ID15178968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17355620..17446698hg38UCSC Ensembl
Innerchr8:17213129..17304207hg19UCSC Ensembl
Innerchr8:17257500..17348578hg18UCSC Ensembl
Innerchr8:17257500..17348578hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3891079
hg1991079
hg1891079
hg1791079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541376
SamplesHGDP00905
Known GenesMTMR7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv465589
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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