A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459533



Internal ID15172912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22416581..22881878hg38UCSC Ensembl
Innerchr22:22770917..23224058hg19UCSC Ensembl
Innerchr22:21100917..21554058hg18UCSC Ensembl
Innerchr22:21095471..21548612hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38465298
hg19453142
hg18453142
hg17453142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536268
Samples1798860280_A
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, 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)nsv459533
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