A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536165



Internal ID15162562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22032219..22225408hg38UCSC Ensembl
Innerchr22:22386617..22579801hg19UCSC Ensembl
Innerchr22:20716617..20909801hg18UCSC Ensembl
Innerchr22:20711171..20904355hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38193190
hg19193185
hg18193185
hg17193185
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459428
Supporting Variants
SamplesHGDP00963
Known Genes
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)nssv536165
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