A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124040



Internal ID20691081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109784708..109785213hg38UCSC Ensembl
chr5:109120409..109120914hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404823
Supporting Variants
Samples
Known GenesMAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124040
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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