A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543013



Internal ID15510701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49289400..49416780hg38UCSC Ensembl
Innerchr11:49310952..49438332hg19UCSC Ensembl
Innerchr11:49267528..49394908hg18UCSC Ensembl
Innerchr11:49267528..49394908hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38127381
hg19127381
hg18127381
hg17127381
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467875
Supporting Variants
SamplesHGDP01285
Known Genes
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)nssv543013
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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