A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18129534



Internal ID20696574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168527424..168552606hg38UCSC Ensembl
chr5:167954429..167979611hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3825183
hg1925183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414595
Supporting Variants
Samples
Known GenesFBLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18129534
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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