A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214451



Internal ID20781491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100784960..100897256hg38UCSC Ensembl
chr5:100120664..100232960hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38112297
hg19112297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413220
Supporting Variants
Samples
Known GenesST8SIA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214451
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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