A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887483



Internal ID22662475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58564222..58566091hg38UCSC Ensembl
chr18:56231454..56233323hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17471377
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887483
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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