A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950581



Internal ID22725978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23346131..23346131hg38UCSC Ensembl
chr8:23203644..23203644hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444112
Samples
Known GenesLOC100507156, LOXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950581
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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