A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930547



Internal ID22705815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35943862..35943913hg38UCSC Ensembl
chr18:33523825..33523876hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382157
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930547
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