A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468893



Internal ID15182272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129908477..129934918hg38UCSC Ensembl
Innerchr11:129778372..129804813hg19UCSC Ensembl
Innerchr11:129283582..129310023hg18UCSC Ensembl
Innerchr11:129283582..129310023hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3826442
hg1926442
hg1826442
hg1726442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543944
SamplesHGDP01021
Known GenesPRDM10
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)nsv468893
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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