A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960417



Internal ID22735390
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 StatusM
Merged Variants
Supporting Variantsnssv17394691
Samples
Known GenesMKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960417
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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