A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459906



Internal ID15519971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46411337..46442257hg38UCSC Ensembl
Innerchr22:46807234..46838154hg19UCSC Ensembl
Innerchr22:45185898..45216818hg18UCSC Ensembl
Innerchr22:45127753..45158673hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3830921
hg1930921
hg1830921
hg1730921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536563
Samples1782681313_A
Known GenesCELSR1
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)nsv459906
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