A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543730



Internal ID15166353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:72570840..72625520hg38UCSC Ensembl
Innerchr11:72281884..72336564hg19UCSC Ensembl
Innerchr11:71959532..72014212hg18UCSC Ensembl
Innerchr11:71959532..72014212hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3854681
hg1954681
hg1854681
hg1754681
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468633
Supporting Variants
SamplesNINDS_98
Known GenesMIR139, PDE2A
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)nssv543730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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