A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543922



Internal ID15164382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103066950..103185951hg38UCSC Ensembl
Innerchr11:102937679..103056680hg19UCSC Ensembl
Innerchr11:102442889..102561890hg18UCSC Ensembl
Innerchr11:102442889..102561890hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38119002
hg19119002
hg18119002
hg17119002
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468855
Supporting Variants
SamplesHGDP01348
Known GenesDCUN1D5, DYNC2H1
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)nssv543922
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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