A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164032



Internal ID20731072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123863801..123865900hg38UCSC Ensembl
chr8:124876041..124878140hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434384
Supporting Variants
Samples
Known GenesFER1L6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164032
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00295


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