A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546933



Internal ID15987656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102890612..102989661hg38UCSC Ensembl
Innerchr1:103356168..103455217hg19UCSC Ensembl
Innerchr1:103128756..103227805hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3899050
hg1999050
hg1899050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv387n54
Supporting Variantsnssv719708
Samples
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546933
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