A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv537n152



Internal ID22816240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206781963..206782065hg38UCSC Ensembl
chr1:206955308..206955410hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195673, nsv3209742
SamplesHG00731, HG00732, HG00733
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv537n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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