A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542914



Internal ID15507230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11024712..11062454hg38UCSC Ensembl
Innerchr11:11046259..11084001hg19UCSC Ensembl
Innerchr11:11002835..11040577hg18UCSC Ensembl
Innerchr11:11002835..11040577hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3837743
hg1937743
hg1837743
hg1737743
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467707
Supporting Variants
SamplesHGDP00628
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)nssv542914
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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