A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543870



Internal ID15511169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90168986..90220213hg38UCSC Ensembl
Innerchr11:89902154..89953381hg19UCSC Ensembl
Innerchr11:89541802..89593029hg18UCSC Ensembl
Innerchr11:89541802..89593029hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3851228
hg1951228
hg1851228
hg1751228
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468787
Supporting Variants
SamplesHGDP01365
Known GenesCHORDC1, NAALAD2
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)nssv543870
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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