A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468776



Internal ID15182155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87077674..87115380hg38UCSC Ensembl
Innerchr11:86788716..86826422hg19UCSC Ensembl
Innerchr11:86466364..86504070hg18UCSC Ensembl
Innerchr11:86466364..86504070hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3837707
hg1937707
hg1837707
hg1737707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543863
SamplesNINDS_223
Known GenesTMEM135
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)nsv468776
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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