A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467695



Internal ID15527760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5878655..5938527hg38UCSC Ensembl
Innerchr11:5899885..5959757hg19UCSC Ensembl
Innerchr11:5856461..5916333hg18UCSC Ensembl
Innerchr11:5856461..5916333hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3859873
hg1959873
hg1859873
hg1759873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv132n27
Supporting Variantsnssv542907
SamplesHGDP01322
Known GenesOR52E4
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)nsv467695
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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