A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18122274



Internal ID20689314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104967891..105274919hg38UCSC Ensembl
chr5:104303592..104610620hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38307029
hg19307029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397052
Supporting Variants
Samples
Known GenesRAB9BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18122274
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