A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6886n152



Internal ID22822589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150233871..150255955hg38UCSC Ensembl
chr4:151155023..151177107hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3822085
hg1922085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226260, nsv3211908
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDCLK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6886n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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