A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394691



Internal ID22452561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40470778..40483512hg38UCSC Ensembl
chr22:40866782..40879516hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3812735
hg1912735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960417
Supporting Variants
Samples
Known GenesMKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394691
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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