A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543007



Internal ID15164120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43897861..43927961hg38UCSC Ensembl
Innerchr11:43919411..43949511hg19UCSC Ensembl
Innerchr11:43875987..43906087hg18UCSC Ensembl
Innerchr11:43875987..43906087hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3830101
hg1930101
hg1830101
hg1730101
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467867
Supporting Variants
SamplesHGDP01303
Known GenesALKBH3, ALKBH3-AS1, SEC14L1P1
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)nssv543007
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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