A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124226



Internal ID20691266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107469599..107470094hg38UCSC Ensembl
chr5:106805300..106805795hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397984
Supporting Variants
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124226
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00217


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