A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467866



Internal ID15527931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40469682..40494243hg38UCSC Ensembl
Innerchr11:40491232..40515793hg19UCSC Ensembl
Innerchr11:40447808..40472369hg18UCSC Ensembl
Innerchr11:40447808..40472369hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3824562
hg1924562
hg1824562
hg1724562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543006
SamplesHGDP00151
Known GenesLRRC4C
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)nsv467866
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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