A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588833



Internal ID18540428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21943275..22243567hg38UCSC Ensembl
Innerchr22:22297647..22597978hg19UCSC Ensembl
Innerchr22:20627647..20927978hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38300293
hg19300332
hg18300332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065598
Supporting Variants
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588833
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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