A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400811



Internal ID22458681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50257626..50258600hg38UCSC Ensembl
chr22:50696055..50697029hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967512
Supporting Variants
Samples
Known GenesMAPK12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400811
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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