A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430971



Internal ID209764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40633174..40633225hg38UCSC Ensembl
chr22:41029178..41029229hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729085
Samples
Known GenesMKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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