A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398428



Internal ID22456298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77045365..77045451hg38UCSC Ensembl
chr18:74757321..74757407hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934035
Supporting Variants
Samples
Known GenesMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398428
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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