A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549678



Internal ID15990401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248582901..248645922hg38UCSC Ensembl
Innerchr1:248746202..248809223hg19UCSC Ensembl
Innerchr1:246812825..246875846hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3863022
hg1963022
hg1863022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv914n54
Supporting Variantsnssv739894
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549678
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