A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468570



Internal ID15528635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55922961..55941339hg38UCSC Ensembl
Innerchr11:55690437..55708815hg19UCSC Ensembl
Innerchr11:55447013..55465391hg18UCSC Ensembl
Innerchr11:55447013..55465391hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3818379
hg1918379
hg1818379
hg1718379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv151n27
Supporting Variantsnssv543686
SamplesHGDP01285
Known GenesOR5I1
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)nsv468570
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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