A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543936



Internal ID15509479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:122687294..122741587hg38UCSC Ensembl
Innerchr11:122558002..122612295hg19UCSC Ensembl
Innerchr11:122063212..122117505hg18UCSC Ensembl
Innerchr11:122063212..122117505hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3854294
hg1954294
hg1854294
hg1754294
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468882
Supporting Variants
SamplesHGDP01019
Known GenesUBASH3B
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)nssv543936
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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