A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588358



Internal ID16029081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22032219..22245798hg38UCSC Ensembl
Innerchr22:22386617..22600210hg19UCSC Ensembl
Innerchr22:20716617..20930210hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38213580
hg19213594
hg18213594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7998n54
Supporting Variantsnssv1151483
SamplesHGDP00793
Known GenesVPREB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588358
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