A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397923



Internal ID177324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73640568..73640619hg38UCSC Ensembl
chr10:75400326..75400377hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036976
Samples
Known GenesMYOZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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