A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468891



Internal ID15528956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128789592..128799925hg38UCSC Ensembl
Innerchr11:128659487..128669820hg19UCSC Ensembl
Innerchr11:128164697..128175030hg18UCSC Ensembl
Innerchr11:128164697..128175030hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3810334
hg1910334
hg1810334
hg1710334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543942
SamplesHGDP01077
Known GenesFLI1
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)nsv468891
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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