A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543717



Internal ID15160035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67997585..68032459hg38UCSC Ensembl
Innerchr11:67765056..67799926hg19UCSC Ensembl
Innerchr11:67521632..67556502hg18UCSC Ensembl
Innerchr11:67521632..67556502hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3834875
hg1934871
hg1834871
hg1734871
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468614
Supporting Variants
SamplesHGDP00546
Known GenesALDH3B1, NDUFS8, UNC93B1
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)nssv543717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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