A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511802



Internal ID288372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52454299..52636313hg38UCSC Ensembl
chr13:53028434..53210448hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38182015
hg19182015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687804
Samples
Known GenesCKAP2, HNRNPA1L2, TPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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