A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542954



Internal ID15512201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:25150539..25579196hg38UCSC Ensembl
Innerchr11:25172085..25600742hg19UCSC Ensembl
Innerchr11:25128661..25557318hg18UCSC Ensembl
Innerchr11:25128661..25557318hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38428658
hg19428658
hg18428658
hg17428658
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467763
Supporting Variants
SamplesNINDS_214
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)nssv542954
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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