A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380296



Internal ID22438166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50636985..50637055hg38UCSC Ensembl
chr18:48163355..48163425hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946892
Supporting Variants
Samples
Known GenesMAPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380296
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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