A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6564n152



Internal ID22822267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42251315..42262317hg38UCSC Ensembl
chr4:42253332..42264334hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811003
hg1911003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202236, nsv3203384
SamplesNA19240
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6564n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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