A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542871



Internal ID15159517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2691056..2717880hg38UCSC Ensembl
Innerchr11:2712286..2739110hg19UCSC Ensembl
Innerchr11:2668862..2695686hg18UCSC Ensembl
Innerchr11:2668862..2695686hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3826825
hg1926825
hg1826825
hg1726825
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467652
Supporting Variants
SamplesHGDP00433
Known GenesKCNQ1, KCNQ1OT1
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)nssv542871
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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