A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7334n152



Internal ID22823037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52087889..52113731hg38UCSC Ensembl
chr5:51383723..51409565hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3825843
hg1925843
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3230154, nsv3210663
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7334n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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