A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553987



Internal ID327185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28184913..28184964hg38UCSC Ensembl
chr13:28759050..28759101hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686468
Samples
Known GenesPAN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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