A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537728



Internal ID312962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23346024..23346074hg38UCSC Ensembl
chr8:23203537..23203587hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009884
Samples
Known GenesLOC100507156, LOXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537728
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