A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588450



Internal ID16029173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22409194..22881878hg38UCSC Ensembl
Innerchr22:22763526..23224058hg19UCSC Ensembl
Innerchr22:21093526..21554058hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38472685
hg19460533
hg18460533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1152102
Samples1780854449_A
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588450
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