A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588512



Internal ID16029235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22655867..23325544hg38UCSC Ensembl
Innerchr22:22998337..23667731hg19UCSC Ensembl
Innerchr22:21328337..21997731hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38669678
hg19669395
hg18669395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952236
Samples
Known GenesBCR, FBXW4P1, GNAZ, IGLL5, MIR650, RAB36, RTDR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588512
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer