A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543884



Internal ID15507788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:97686786..97746563hg38UCSC Ensembl
Innerchr11:97557786..97617563hg19UCSC Ensembl
Innerchr11:97062996..97122773hg18UCSC Ensembl
Innerchr11:97062996..97122773hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3859778
hg1959778
hg1859778
hg1759778
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468803
Supporting Variants
SamplesHGDP00716
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)nssv543884
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer