A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467630



Internal ID15181009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..224832hg38UCSC Ensembl
Innerchr11:198510..224832hg19UCSC Ensembl
Innerchr11:188510..214832hg18UCSC Ensembl
Innerchr11:188510..214832hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3826323
hg1926323
hg1826323
hg1726323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542854
SamplesHGDP01365
Known GenesBET1L, MIR6743, ODF3, RIC8A, SIRT3
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)nsv467630
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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