A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066340



Internal ID18808871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38729069..38774287hg38UCSC Ensembl
Innerchr22:39125074..39170292hg19UCSC Ensembl
Innerchr22:37455020..37500238hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3845219
hg1945219
hg1845219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4566n100
Supporting Variantsnssv3600880
Samples
Known GenesGTPBP1, SUN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066340
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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