A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468610



Internal ID15181989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67734155..67947557hg38UCSC Ensembl
Innerchr11:67501626..67715028hg19UCSC Ensembl
Innerchr11:67258202..67471604hg18UCSC Ensembl
Innerchr11:67258202..67471604hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38213403
hg19213403
hg18213403
hg17213403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543713
SamplesHGDP00697
Known GenesFAM86C2P
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)nsv468610
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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