A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584254



Internal ID16371663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207470786..207493114hg38UCSC Ensembl
Innerchr2:208335510..208357838hg19UCSC Ensembl
Innerchr2:208043755..208066083hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3822329
hg1922329
hg1822329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930619
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584254
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