A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468845



Internal ID15528910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100017658..100064906hg38UCSC Ensembl
Innerchr11:99888390..99935638hg19UCSC Ensembl
Innerchr11:99393600..99440848hg18UCSC Ensembl
Innerchr11:99393600..99440848hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3847249
hg1947249
hg1847249
hg1747249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543913
SamplesHGDP01262
Known GenesCNTN5
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)nsv468845
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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