A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2275n152



Internal ID22817978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52471592..52539973hg38UCSC Ensembl
chr13:53045727..53114108hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3868382
hg1968382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3239217, nsv3232224
SamplesNA19238, HG00732
Known GenesCKAP2, TPTE2P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2275n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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