A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893564



Internal ID22668626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90522611..90522678hg38UCSC Ensembl
chr5:89818428..89818495hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418862
Samples
Known GenesLYSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893564
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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