A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv258n152



Internal ID22815961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67228018..67228077hg38UCSC Ensembl
chr1:67693701..67693760hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281674, nsv3280204
SamplesNA19240, HG00733
Known GenesIL23R
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv258n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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