A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549469



Internal ID16336878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242678998..242917221hg38UCSC Ensembl
Innerchr1:242842300..243080523hg19UCSC Ensembl
Innerchr1:240908923..241147146hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38238224
hg19238224
hg18238224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739148
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549469
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