A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555402



Internal ID328558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3167198..3176235hg38UCSC Ensembl
chr18:3167196..3176233hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg389038
hg199038
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715913
Samples
Known GenesMYOM1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555402
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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