A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543857



Internal ID15506604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:84556142..84634786hg38UCSC Ensembl
Innerchr11:84267185..84345829hg19UCSC Ensembl
Innerchr11:83944833..84023477hg18UCSC Ensembl
Innerchr11:83944833..84023477hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3878645
hg1978645
hg1878645
hg1778645
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468766
Supporting Variants
SamplesHGDP00530
Known GenesDLG2
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)nssv543857
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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