A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551018



Internal ID324509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:87092391..87092431hg38UCSC Ensembl
chr8:88104619..88104659hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015513
Samples
Known GenesCNBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551018
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