A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594863



Internal ID16382272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91474205..91840431hg38UCSC Ensembl
Innerchr4:92395356..92761582hg19UCSC Ensembl
Innerchr4:92614379..92980605hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38366227
hg19366227
hg18366227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9166n54
Supporting Variantsnssv1003193
Samples
Known GenesCCSER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594863
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