A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426879



Internal ID22484749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180286145..180286722hg38UCSC Ensembl
chr5:179713145..179713722hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887728
Supporting Variants
Samples
Known GenesMAPK9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426879
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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