A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467784



Internal ID15527849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31364272..31406655hg38UCSC Ensembl
Innerchr11:31385819..31428202hg19UCSC Ensembl
Innerchr11:31342395..31384778hg18UCSC Ensembl
Innerchr11:31342395..31384778hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3842384
hg1942384
hg1842384
hg1742384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542973
Samples1780862202_A
Known GenesDCDC1, DNAJC24
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)nsv467784
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