A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468568



Internal ID15528633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55915319..56052068hg38UCSC Ensembl
Innerchr11:55682795..55819544hg19UCSC Ensembl
Innerchr11:55439371..55576120hg18UCSC Ensembl
Innerchr11:55439371..55576120hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38136750
hg19136750
hg18136750
hg17136750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543684
SamplesHGDP00941
Known GenesOR10AG1, OR5AS1, OR5F1, OR5I1, OR7E5P
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)nsv468568
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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