A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468869



Internal ID15528934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:111042516..111072412hg38UCSC Ensembl
Innerchr11:110913240..110943136hg19UCSC Ensembl
Innerchr11:110418450..110448346hg18UCSC Ensembl
Innerchr11:110418450..110448346hg17UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3829897
hg1929897
hg1829897
hg1729897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543928
SamplesHGDP00860
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)nsv468869
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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