A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583608



Internal ID16024331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169769815..169984892hg38UCSC Ensembl
Innerchr2:170626325..170841402hg19UCSC Ensembl
Innerchr2:170334571..170549648hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38215078
hg19215078
hg18215078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925285
Samples
Known GenesMETTL5, SSB, UBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583608
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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