A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549384



Internal ID15990107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234608602..234611066hg38UCSC Ensembl
Innerchr1:234744348..234746812hg19UCSC Ensembl
Innerchr1:232810971..232813435hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382465
hg192465
hg182465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv862n54
Supporting Variantsnssv738167, nssv738166
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549384
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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