A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543926



Internal ID15163292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107778300..107826907hg38UCSC Ensembl
Innerchr11:107649026..107697633hg19UCSC Ensembl
Innerchr11:107154236..107202843hg18UCSC Ensembl
Innerchr11:107154236..107202843hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3848608
hg1948608
hg1848608
hg1748608
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468867
Supporting Variants
SamplesHGDP01166
Known GenesSLC35F2
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)nssv543926
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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