A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549293



Internal ID16336702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228276547..228341905hg38UCSC Ensembl
Innerchr1:228464248..228529606hg19UCSC Ensembl
Innerchr1:226530871..226596229hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3865359
hg1965359
hg1865359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv840n54
Supporting Variantsnssv737465
Samples
Known GenesOBSCN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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