A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943202



Internal ID22718647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44628230..44628306hg38UCSC Ensembl
chr19:45131528..45131604hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403965
Samples
Known GenesIGSF23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943202
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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