A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543896



Internal ID15511410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:98940429..98965361hg38UCSC Ensembl
Innerchr11:98811159..98836091hg19UCSC Ensembl
Innerchr11:98316369..98341301hg18UCSC Ensembl
Innerchr11:98316369..98341301hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3824933
hg1924933
hg1824933
hg1724933
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468822
Supporting Variants
SamplesHGDP01414
Known Genes
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)nssv543896
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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