A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536180



Internal ID15162978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22162812..22769368hg38UCSC Ensembl
Innerchr22:22517205..23111861hg19UCSC Ensembl
Innerchr22:20847205..21441861hg18UCSC Ensembl
Innerchr22:20841759..21436415hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38606557
hg19594657
hg18594657
hg17594657
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459443
Supporting Variants
SamplesHGDP01062
Known GenesBMS1P20, GGTLC2, LOC648691, POM121L1P, PRAME, VPREB1, ZNF280A, ZNF280B
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)nssv536180
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