A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468784



Internal ID15528849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89291287..89367161hg38UCSC Ensembl
Innerchr11:89024455..89100329hg19UCSC Ensembl
Innerchr11:88664103..88739977hg18UCSC Ensembl
Innerchr11:88664103..88739977hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3875875
hg1975875
hg1875875
hg1775875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165n27
Supporting Variantsnssv543868
SamplesHGDP00043
Known GenesNOX4, TYR
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)nsv468784
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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