A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944794



Internal ID22720264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:53490838..53496671hg38UCSC Ensembl
chr18:51017208..51023041hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385834
hg195834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373504
Samples
Known GenesDCC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944794
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