A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055514



Internal ID19144733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25288852..25515469hg38UCSC Ensembl
Innerchr22:25684819..25911436hg19UCSC Ensembl
Innerchr22:24014819..24241436hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38226618
hg19226618
hg18226618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3600559
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055514
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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