A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv592n54



Internal ID22768487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158755555..158758153hg38UCSC Ensembl
chr1:158725345..158727943hg19UCSC Ensembl
chr1:156991969..156994567hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547998, nsv547999, nsv547996, nsv547997
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv592n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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