A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543742



Internal ID15509529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81606904..81652893hg38UCSC Ensembl
Innerchr11:81317946..81363935hg19UCSC Ensembl
Innerchr11:80995594..81041583hg18UCSC Ensembl
Innerchr11:80995594..81041583hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3845990
hg1945990
hg1845990
hg1745990
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468651
Supporting Variants
SamplesHGDP01029
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)nssv543742
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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