A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227041



Internal ID20794081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50461092..50461590hg38UCSC Ensembl
chr14:50927810..50928308hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6589614
Supporting Variants
Samples
Known GenesMAP4K5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227041
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00014


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