A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048121



Internal ID20615161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43722149..43731292hg38UCSC Ensembl
chr19:44226301..44235444hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg389144
hg199144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528819
Supporting Variants
Samples
Known GenesSMG9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048121
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