A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468855



Internal ID15182234
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543922
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)nsv468855
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer