A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057208



Internal ID18799739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41869381..41985423hg38UCSC Ensembl
Innerchr22:42265385..42381427hg19UCSC Ensembl
Innerchr22:40595331..40711373hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38116043
hg19116043
hg18116043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590815
Samples
Known GenesCENPM, LINC00634, MIR33A, SEPT3, SHISA8, SREBF2, TNFRSF13C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057208
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