A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543872



Internal ID15505217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90956309..91030944hg38UCSC Ensembl
Innerchr11:90689477..90764112hg19UCSC Ensembl
Innerchr11:90329125..90403760hg18UCSC Ensembl
Innerchr11:90329125..90403760hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3874636
hg1974636
hg1874636
hg1774636
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468789
Supporting Variants
SamplesHGDP00076
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)nssv543872
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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